CAPNS1 calpain small subunit 1
Gene ID: 826, updated on 10-Oct-2024Gene type: protein coding
Also known as: CANP; CDPS; CSS1; PPH6; CANPS; CAPN4; CALPAIN4
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- Go to complete Gene record for CAPNS1
- Go to Variation Viewer for CAPNS1 variants
Summary
This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Pulmonary hypertension, primary, 6 | not available |
Genomic context
- Location:
- 19q13.12
- Sequence:
- Chromosome: 19; NC_000019.10 (36140066..36150353)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CAPNS1 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
- Variation ViewerRelated Variants
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