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dystrobrevin, beta
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| Identifiers | |
| Symbol | DTNB |
| Entrez | 1838 |
| HUGO | 3058 |
| OMIM | 602415 |
| RefSeq | NM_033147 |
| UniProt | O60941 |
| Other data | |
| Locus | Chr. 2 p23.2 |
Beta dystrobrevin also known as DTNB is a protein which in humans is encoded by the DTNB gene.[1]
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.[2]
References
- ^ 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. PMID 9419360. PMC: 18188. http://www.pnas.org/content/95/1/241.
- ^ "Entrez Gene: DTNB dystrobrevin, beta". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1838.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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