DTNB

Beta dystrobrevin also known as DTNB is a protein which in humans is encoded by the DTNB gene.[5]

DTNB
Identifiers
AliasesDTNB, dystrobrevin beta
External IDsOMIM: 602415 MGI: 1203728 HomoloGene: 74875 GeneCards: DTNB
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2p23.3Start25,377,198 bp[1]
End25,673,647 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

1838

13528

Ensembl

ENSG00000138101

ENSMUSG00000071454

UniProt

O60941

O70585

RefSeq (mRNA)

NM_001162465
NM_007886
NM_001355528
NM_001374710

RefSeq (protein)

NP_001155937
NP_031912
NP_001342457
NP_001361639

Location (UCSC)Chr 2: 25.38 – 25.67 MbChr 12: 3.57 – 3.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. Alternatively spliced transcript variants encoding different isoforms have been identified.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000138101 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000071454 - Ensembl, 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. Blake DJ, Nawrotzki R, Loh NY, Górecki DC, Davies KE (January 1998). "beta-dystrobrevin, a member of the dystrophin-related protein family". Proc. Natl. Acad. Sci. U.S.A. 95 (1): 241–6. doi:10.1073/pnas.95.1.241. PMC 18188. PMID 9419360.
  6. "Entrez Gene: DTNB dystrobrevin, beta".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.