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Protein-coding gene in the species Homo sapiens

SNTB1

SNTB1
All data from the card 14
Aliases
SNTB1, 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43, syntrophin beta 1
External IDs
OMIM: 600026; MGI: 101781; GeneCards: SNTB1
Chr.
Chromosome 15 (mouse)
Band
15 D1|15 22.14 cM
End
55,770,345 bp
BioGPS
More reference expression data
Databases
NCBI: entry
Species
Human
Entrez
6641
Ensembl
n/a
UniProt
Q13884
RefSeq (mRNA)
NM_021021
RefSeq (protein)
NP_066301
Location (UCSC)
n/a

Beta-1-syntrophin is a protein that in humans is encoded by the SNTB1 gene.

Function

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally related genes.

Interactions

SNTB1 has been shown to interact with Dystrophin.

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Text from Wikipedia, CC BY-SA 4.0 · Source article