SNTB1 syntrophin beta 1
Gene ID: 6641, updated on 17-Jun-2024Gene type: protein coding
Also known as: A1B; SNT2; BSYN2; 59-DAP; DAPA1B; SNT2B1; TIP-43
- See all available tests in GTR for this gene
- Go to complete Gene record for SNTB1
- Go to Variation Viewer for SNTB1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population. GeneReviews: Not available | |
| Common variants at 5q22 associate with pediatric eosinophilic esophagitis. GeneReviews: Not available | |
| Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia. GeneReviews: Not available | |
| Genome-wide association study of chronic periodontitis in a general German population. GeneReviews: Not available |
Genomic context
- Location:
- 8q24.12
- Sequence:
- Chromosome: 8; NC_000008.11 (120535756..120812046, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SNTB1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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