ATP11C ATPase phospholipid transporting 11C
Gene ID: 286410, updated on 28-Oct-2024Gene type: protein coding
Also known as: ATPIG; ATPIQ; HACXL
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- Go to complete Gene record for ATP11C
- Go to Variation Viewer for ATP11C variants
Summary
Enables phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Involved in phospholipid translocation. Located in endoplasmic reticulum and plasma membrane. Part of phospholipid-translocating ATPase complex. Implicated in X-linked congenital hemolytic anemia. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| X-linked congenital hemolytic anemia | See labs |
Genomic context
- Location:
- Xq27.1
- Sequence:
- Chromosome: X; NC_000023.11 (139726348..139936903, complement)
- Total number of exons:
- 35
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP11C variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ATP11C @ LOVD
- 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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