STAC3 SH3 and cysteine rich domain 3
Gene ID: 246329, updated on 2-Nov-2024Gene type: protein coding
Also known as: NAM; MYPBB; CMYO13; CMYP13
- See all available tests in GTR for this gene
- Go to complete Gene record for STAC3
- Go to Variation Viewer for STAC3 variants
Summary
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bailey-Bloch congenital myopathy | See labs |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available |
Genomic context
- Location:
- 12q13.3
- Sequence:
- Chromosome: 12; NC_000012.12 (57243458..57251187, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STAC3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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