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IGHMBP2

From Wikipedia, the free encyclopedia
IGHMBP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesIGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2, immunoglobulin mu DNA binding protein 2
External IDsOMIM: 600502; MGI: 99954; HomoloGene: 1642; GeneCards: IGHMBP2; OMA:IGHMBP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002180

NM_009212

RefSeq (protein)

NP_002171

n/a

Location (UCSC)Chr 11: 68.9 – 68.94 MbChr 19: 3.31 – 3.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene.[5][6]

Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000132740Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024831Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T (August 1993). "The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region". The Journal of Biological Chemistry. 268 (23): 17463–70. doi:10.1016/S0021-9258(19)85357-7. PMID 8349627.
  6. ^ "Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".
  7. ^ Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C (September 2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nature Genetics. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396. S2CID 7028396.

Further reading

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