TAP2: Difference between revisions
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{{Short description|Protein-coding gene in the species Homo sapiens}} |
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{{PBB|geneid=6891}} |
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{{Infobox_gene}} |
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'''TAP2''' is a [[gene]] in humans that encodes the [[protein]] '''Antigen peptide transporter 2'''.<ref name="pmid1529427">{{cite journal | |
'''TAP2''' is a [[gene]] in humans that encodes the [[protein]] '''Antigen peptide transporter 2'''.<ref name="pmid1529427">{{cite journal | vauthors = Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach B, Mayr WR, Parham P, Sasazuki T | title = Nomenclature for factors of the HLA system, 1991. WHO Nomenclature Committee for factors of the HLA system | journal = Tissue Antigens | volume = 39 | issue = 4 | pages = 161–73 | date = Oct 1992 | pmid = 1529427 | doi = 10.1111/j.1399-0039.1992.tb01932.x | doi-access = free }}</ref><ref name="pmid1946428">{{cite journal | vauthors = Bahram S, Arnold D, Bresnahan M, Strominger JL, Spies T | title = Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region | journal = Proc Natl Acad Sci U S A | volume = 88 | issue = 22 | pages = 10094–8 | date = Dec 1991 | pmid = 1946428 | pmc = 52874 | doi = 10.1073/pnas.88.22.10094 | bibcode = 1991PNAS...8810094B | doi-access = free }}</ref><ref name="pmid16395595">{{cite journal | vauthors = Hahn Y, Lee B | title = Human-specific nonsense mutations identified by genome sequence comparisons | journal = Hum Genet | volume = 119 | issue = 1–2 | pages = 169–78 | date = Feb 2006 | pmid = 16395595 | doi = 10.1007/s00439-005-0125-6 | s2cid = 21059468 | url = https://zenodo.org/record/1232721 }}</ref> |
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== Function == |
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{{PBB_Summary |
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⚫ | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various [[molecule]]s across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2 ([[TAP1]]). The protein encoded by this gene is involved in [[antigen presentation]]. This protein forms a heterodimer with ABCB2 in order to transport peptides from the [[cytoplasm]] to the [[endoplasmic reticulum]]. Mutations in this gene may be associated with [[ankylosing spondylitis]], insulin-dependent [[diabetes mellitus]], [[schizophrenia]],<ref>{{cite journal | vauthors = Yu H | title = Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population. | journal = Journal of Psychiatric Research | year = 2014 | volume = 50 | pages = 73–8 | doi = 10.1016/j.jpsychires.2013.11.014 | pmid = 24365204 }}</ref> and [[celiac disease]]. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules.<ref>{{cite web | title = Entrez Gene: TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6891}}</ref> |
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* [[ATP-binding cassette transporter]] |
* [[ATP-binding cassette transporter]] |
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==References== |
== References == |
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{{reflist}} |
{{reflist}} |
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==Further reading== |
== Further reading == |
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{{refbegin | 2}} |
{{refbegin | 2}} |
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* {{cite journal | vauthors = Townsend A, Trowsdale J | title = The transporters associated with antigen presentation | journal = Semin. Cell Biol. | volume = 4 | issue = 1 | pages = 53–61 | year = 1993 | pmid = 8453065 | doi = 10.1006/scel.1993.1007 }} |
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{{PBB_Further_reading |
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* {{cite journal | vauthors = Beck S, Kelly A, Radley E, Khurshid F, Alderton RP, Trowsdale J | title = DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing | journal = J. Mol. Biol. | volume = 228 | issue = 2 | pages = 433–41 | year = 1992 | pmid = 1453454 | doi = 10.1016/0022-2836(92)90832-5 }} |
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| citations = |
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*{{cite journal |
* {{cite journal | vauthors = Kelly A, Powis SH, Kerr LA, Mockridge I, Elliott T, Bastin J, Uchanska-Ziegler B, Ziegler A, Trowsdale J, Townsend A | title = Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex | journal = Nature | volume = 355 | issue = 6361 | pages = 641–4 | year = 1992 | pmid = 1538751 | doi = 10.1038/355641a0 | bibcode = 1992Natur.355..641K | s2cid = 32569414 | doi-access = free }} |
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*{{cite journal |
* {{cite journal | vauthors = Colonna M, Bresnahan M, Bahram S, Strominger JL, Spies T | title = Allelic variants of the human putative peptide transporter involved in antigen processing | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 89 | issue = 9 | pages = 3932–6 | year = 1992 | pmid = 1570316 | pmc = 525605 | doi = 10.1073/pnas.89.9.3932 | bibcode = 1992PNAS...89.3932C | doi-access = free }} |
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*{{cite journal |
* {{cite journal | vauthors = Powis SH, Mockridge I, Kelly A, Kerr LA, Glynne R, Gileadi U, Beck S, Trowsdale J | title = Polymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complex | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 89 | issue = 4 | pages = 1463–7 | year = 1992 | pmid = 1741401 | pmc = 48471 | doi = 10.1073/pnas.89.4.1463 | bibcode = 1992PNAS...89.1463P | doi-access = free }} |
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*{{cite journal |
* {{cite journal | vauthors = Trowsdale J, Hanson I, Mockridge I, Beck S, Townsend A, Kelly A | title = Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters | journal = Nature | volume = 348 | issue = 6303 | pages = 741–4 | year = 1991 | pmid = 2259383 | doi = 10.1038/348741a0 | s2cid = 4279033 }} |
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*{{cite journal |
* {{cite journal | vauthors = de la Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, Powis SH, Donato L, Bausinger H, Laforet M | title = Homozygous human TAP peptide transporter mutation in HLA class I deficiency | journal = Science | volume = 265 | issue = 5169 | pages = 237–41 | year = 1994 | pmid = 7517574 | doi = 10.1126/science.7517574 | bibcode = 1994Sci...265..237D }} |
||
*{{cite journal |
* {{cite journal | vauthors = Cano P, Baxter-Lowe LA | title = Novel human TAP2*103 allele shows further polymorphism in the ATP-binding domain | journal = Tissue Antigens | volume = 45 | issue = 2 | pages = 139–42 | year = 1995 | pmid = 7792761 | doi = 10.1111/j.1399-0039.1995.tb02431.x }} |
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*{{cite journal |
* {{cite journal | vauthors = Roby KF, Fei K, Yang Y, Hunt JS | title = Expression of HLA class II-associated peptide transporter and proteasome genes in human placentas and trophoblast cell lines | journal = Immunology | volume = 83 | issue = 3 | pages = 444–8 | year = 1995 | pmid = 7835969 | pmc = 1415039 }} |
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*{{cite journal |
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }} |
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*{{cite journal |
* {{cite journal | vauthors = Singal DP, Ye M, Qiu X, D'Souza M | title = Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis | journal = Clin. Exp. Rheumatol. | volume = 12 | issue = 1 | pages = 29–33 | year = 1994 | pmid = 8162639 }} |
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*{{cite journal |
* {{cite journal | vauthors = Powis SH, Tonks S, Mockridge I, Kelly AP, Bodmer JG, Trowsdale J | title = Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2 | journal = Immunogenetics | volume = 37 | issue = 5 | pages = 373–80 | year = 1993 | pmid = 8428770 | doi = 10.1007/BF00216802 | s2cid = 35123181 }} |
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*{{cite journal |
* {{cite journal | vauthors = Glynne R, Kerr LA, Mockridge I, Beck S, Kelly A, Trowsdale J | title = The major histocompatibility complex-encoded proteasome component LMP7: alternative first exons and post-translational processing | journal = Eur. J. Immunol. | volume = 23 | issue = 4 | pages = 860–6 | year = 1993 | pmid = 8458375 | doi = 10.1002/eji.1830230414 | s2cid = 44733094 }} |
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*{{cite journal |
* {{cite journal | vauthors = Beck S, Abdulla S, Alderton RP, Glynne RJ, Gut IG, Hosking LK, Jackson A, Kelly A, Newell WR, Sanseau P, Radley E, Thorpe KL, Trowsdale J | title = Evolutionary dynamics of non-coding sequences within the class II region of the human MHC | journal = J. Mol. Biol. | volume = 255 | issue = 1 | pages = 1–13 | year = 1996 | pmid = 8568858 | doi = 10.1006/jmbi.1996.0001 }} |
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*{{cite journal |
* {{cite journal | vauthors = Ahn K, Meyer TH, Uebel S, Sempé P, Djaballah H, Yang Y, Peterson PA, Früh K, Tampé R | title = Molecular mechanism and species specificity of TAP inhibition by herpes simplex virus ICP47 | journal = EMBO J. | volume = 15 | issue = 13 | pages = 3247–55 | year = 1996 | pmid = 8670825 | pmc = 451885 | doi = 10.1002/j.1460-2075.1996.tb00689.x}} |
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*{{cite journal |
* {{cite journal | vauthors = Pattanakitsakul S, Takeuchi F, Nabeta H, Nakano K, Kuwata S, Yanagisawa M, Shibata Y, Ito K | title = A novel TAP 2 gene RFLP observed in a Japanese | journal = Tissue Antigens | volume = 47 | issue = 4 | pages = 353–5 | year = 1996 | pmid = 8773329 | doi = 10.1111/j.1399-0039.1996.tb02567.x }} |
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*{{cite journal |
* {{cite journal | vauthors = Lewis JW, Neisig A, Neefjes J, Elliott T | title = Point mutations in the alpha 2 domain of HLA-A2.1 define a functionally relevant interaction with TAP | journal = Curr. Biol. | volume = 6 | issue = 7 | pages = 873–83 | year = 1997 | pmid = 8805302 | doi = 10.1016/S0960-9822(02)00611-5 | doi-access = free }} |
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*{{cite journal | author=Pattanakitsakul S, Takeuchi F, Nabeta H, ''et al.'' |title=A novel TAP 2 gene RFLP observed in a Japanese. |journal=Tissue Antigens |volume=47 |issue= 4 |pages= 353–5 |year= 1996 |pmid= 8773329 |doi=10.1111/j.1399-0039.1996.tb02567.x }} |
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*{{cite journal | author=Lewis JW, Neisig A, Neefjes J, Elliott T |title=Point mutations in the alpha 2 domain of HLA-A2.1 define a functionally relevant interaction with TAP. |journal=Curr. Biol. |volume=6 |issue= 7 |pages= 873–83 |year= 1997 |pmid= 8805302 |doi=10.1016/S0960-9822(02)00611-5 }} |
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}} |
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{{refend}} |
{{refend}} |
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* {{MeshName|TAP2+protein,+human}} |
* {{MeshName|TAP2+protein,+human}} |
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{{NLM content}} |
{{NLM content}} |
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{{Membrane transport proteins}} |
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[[Category:ATP-binding cassette transporters]] |
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Latest revision as of 19:32, 12 August 2023
TAP2 is a gene in humans that encodes the protein Antigen peptide transporter 2.[5][6][7]
Function
[edit]The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2 (TAP1). The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, schizophrenia,[8] and celiac disease. Alternative splicing of this gene produces two products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules.[9]
See also
[edit]References
[edit]- ^ a b c ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 GRCh38: Ensembl release 89: ENSG00000204267, ENSG00000206299, ENSG00000228582, ENSG00000206235, ENSG00000225967, ENSG00000237599, ENSG00000223481, ENSG00000232326 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024339 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Bodmer JG, Marsh SG, Albert ED, Bodmer WF, Dupont B, Erlich HA, Mach B, Mayr WR, Parham P, Sasazuki T (Oct 1992). "Nomenclature for factors of the HLA system, 1991. WHO Nomenclature Committee for factors of the HLA system". Tissue Antigens. 39 (4): 161–73. doi:10.1111/j.1399-0039.1992.tb01932.x. PMID 1529427.
- ^ Bahram S, Arnold D, Bresnahan M, Strominger JL, Spies T (Dec 1991). "Two putative subunits of a peptide pump encoded in the human major histocompatibility complex class II region". Proc Natl Acad Sci U S A. 88 (22): 10094–8. Bibcode:1991PNAS...8810094B. doi:10.1073/pnas.88.22.10094. PMC 52874. PMID 1946428.
- ^ Hahn Y, Lee B (Feb 2006). "Human-specific nonsense mutations identified by genome sequence comparisons". Hum Genet. 119 (1–2): 169–78. doi:10.1007/s00439-005-0125-6. PMID 16395595. S2CID 21059468.
- ^ Yu H (2014). "Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population". Journal of Psychiatric Research. 50: 73–8. doi:10.1016/j.jpsychires.2013.11.014. PMID 24365204.
- ^ "Entrez Gene: TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)".
Further reading
[edit]- Townsend A, Trowsdale J (1993). "The transporters associated with antigen presentation". Semin. Cell Biol. 4 (1): 53–61. doi:10.1006/scel.1993.1007. PMID 8453065.
- Beck S, Kelly A, Radley E, Khurshid F, Alderton RP, Trowsdale J (1992). "DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing". J. Mol. Biol. 228 (2): 433–41. doi:10.1016/0022-2836(92)90832-5. PMID 1453454.
- Kelly A, Powis SH, Kerr LA, Mockridge I, Elliott T, Bastin J, Uchanska-Ziegler B, Ziegler A, Trowsdale J, Townsend A (1992). "Assembly and function of the two ABC transporter proteins encoded in the human major histocompatibility complex". Nature. 355 (6361): 641–4. Bibcode:1992Natur.355..641K. doi:10.1038/355641a0. PMID 1538751. S2CID 32569414.
- Colonna M, Bresnahan M, Bahram S, Strominger JL, Spies T (1992). "Allelic variants of the human putative peptide transporter involved in antigen processing". Proc. Natl. Acad. Sci. U.S.A. 89 (9): 3932–6. Bibcode:1992PNAS...89.3932C. doi:10.1073/pnas.89.9.3932. PMC 525605. PMID 1570316.
- Powis SH, Mockridge I, Kelly A, Kerr LA, Glynne R, Gileadi U, Beck S, Trowsdale J (1992). "Polymorphism in a second ABC transporter gene located within the class II region of the human major histocompatibility complex". Proc. Natl. Acad. Sci. U.S.A. 89 (4): 1463–7. Bibcode:1992PNAS...89.1463P. doi:10.1073/pnas.89.4.1463. PMC 48471. PMID 1741401.
- Trowsdale J, Hanson I, Mockridge I, Beck S, Townsend A, Kelly A (1991). "Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters". Nature. 348 (6303): 741–4. doi:10.1038/348741a0. PMID 2259383. S2CID 4279033.
- de la Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, Powis SH, Donato L, Bausinger H, Laforet M (1994). "Homozygous human TAP peptide transporter mutation in HLA class I deficiency". Science. 265 (5169): 237–41. Bibcode:1994Sci...265..237D. doi:10.1126/science.7517574. PMID 7517574.
- Cano P, Baxter-Lowe LA (1995). "Novel human TAP2*103 allele shows further polymorphism in the ATP-binding domain". Tissue Antigens. 45 (2): 139–42. doi:10.1111/j.1399-0039.1995.tb02431.x. PMID 7792761.
- Roby KF, Fei K, Yang Y, Hunt JS (1995). "Expression of HLA class II-associated peptide transporter and proteasome genes in human placentas and trophoblast cell lines". Immunology. 83 (3): 444–8. PMC 1415039. PMID 7835969.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Singal DP, Ye M, Qiu X, D'Souza M (1994). "Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis". Clin. Exp. Rheumatol. 12 (1): 29–33. PMID 8162639.
- Powis SH, Tonks S, Mockridge I, Kelly AP, Bodmer JG, Trowsdale J (1993). "Alleles and haplotypes of the MHC-encoded ABC transporters TAP1 and TAP2". Immunogenetics. 37 (5): 373–80. doi:10.1007/BF00216802. PMID 8428770. S2CID 35123181.
- Glynne R, Kerr LA, Mockridge I, Beck S, Kelly A, Trowsdale J (1993). "The major histocompatibility complex-encoded proteasome component LMP7: alternative first exons and post-translational processing". Eur. J. Immunol. 23 (4): 860–6. doi:10.1002/eji.1830230414. PMID 8458375. S2CID 44733094.
- Beck S, Abdulla S, Alderton RP, Glynne RJ, Gut IG, Hosking LK, Jackson A, Kelly A, Newell WR, Sanseau P, Radley E, Thorpe KL, Trowsdale J (1996). "Evolutionary dynamics of non-coding sequences within the class II region of the human MHC". J. Mol. Biol. 255 (1): 1–13. doi:10.1006/jmbi.1996.0001. PMID 8568858.
- Ahn K, Meyer TH, Uebel S, Sempé P, Djaballah H, Yang Y, Peterson PA, Früh K, Tampé R (1996). "Molecular mechanism and species specificity of TAP inhibition by herpes simplex virus ICP47". EMBO J. 15 (13): 3247–55. doi:10.1002/j.1460-2075.1996.tb00689.x. PMC 451885. PMID 8670825.
- Pattanakitsakul S, Takeuchi F, Nabeta H, Nakano K, Kuwata S, Yanagisawa M, Shibata Y, Ito K (1996). "A novel TAP 2 gene RFLP observed in a Japanese". Tissue Antigens. 47 (4): 353–5. doi:10.1111/j.1399-0039.1996.tb02567.x. PMID 8773329.
- Lewis JW, Neisig A, Neefjes J, Elliott T (1997). "Point mutations in the alpha 2 domain of HLA-A2.1 define a functionally relevant interaction with TAP". Curr. Biol. 6 (7): 873–83. doi:10.1016/S0960-9822(02)00611-5. PMID 8805302.
External links
[edit]- TAP2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.