SNTB1 Chromosome 8
Syntrophin beta 1
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Pleckstrin homology domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
8q24.12
Ensembl
ENSG00000172164
Associated Conditions (1)
Lip and oral cavity carcinoma
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10090787 | Health Risk | association | Lip and oral cavity carcinoma, Lip and oral cavity carcinoma |