ATP2C1 ATPase secretory pathway Ca2+ transporting 1
Gene ID: 27032, updated on 10-Oct-2024Gene type: protein coding
Also known as: HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A
- See all available tests in GTR for this gene
- Go to complete Gene record for ATP2C1
- Go to Variation Viewer for ATP2C1 variants
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial benign pemphigus | See labs |
Genomic context
- Location:
- 3q22.1
- Sequence:
- Chromosome: 3; NC_000003.12 (130850595..131016712)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP2C1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ATP2C1 database
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.