TAP2: Difference between revisions
Appearance
Content deleted Content added
added schizophrenia in pathalogy associated with some TEP2 allele |
No edit summary |
||
Line 5: | Line 5: | ||
{{PBB_Summary |
{{PBB_Summary |
||
| section_title = |
| section_title = |
||
| summary_text = 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. 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 | author = Yu H | title = Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population. }}</ref> |
| summary_text = 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. 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 | author = Yu H | title = Protein-interaction-network-based analysis for genome-wide association analysis of schizophrenia in Han Chinese population. }}</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 = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6891| accessdate = }}</ref> |
||
}} |
}} |
||
Revision as of 21:28, 13 February 2014
Template:PBB TAP2 is a gene in humans that encodes the protein Antigen peptide transporter 2.[1][2][3]
See also
References
- ^ Bodmer JG; Marsh SG; Albert ED; Bodmer WF; Dupont B; Erlich HA; Mach B; Mayr WR; Parham P (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. PMID 1529427.
{{cite journal}}
: Invalid|display-authors=10
(help); Unknown parameter|author-separator=
ignored (help) - ^ 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. doi:10.1073/pnas.88.22.10094. PMC 52874. PMID 1946428.
{{cite journal}}
: CS1 maint: multiple names: authors list (link) - ^ 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.
Further reading
External links
- 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.