ATP10A ATPase phospholipid transporting 10A (putative)
Gene ID: 57194, updated on 28-Oct-2024Gene type: protein coding
Also known as: ATPVA; ATPVC; ATP10C
- See all available tests in GTR for this gene
- Go to complete Gene record for ATP10A
- Go to Variation Viewer for ATP10A variants
Summary
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
| Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-04-24) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-04-24) ClinGen Genome Curation Page |
Genomic context
- Location:
- 15q12
- Sequence:
- Chromosome: 15; NC_000015.10 (25672237..25865088, complement)
- Total number of exons:
- 27
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP10A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ATP10A database
- 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
- 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.