ATP10A Chromosome 15
ATPase phospholipid transporting 10A (putative)
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What This Gene Does
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]
Gene Info
Gene Group
"ATPase phospholipid transporting|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q12
Ensembl
ENSG00000206190
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS753168128 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS113319791 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS114768815 | Health Risk | Conflicting classifications of pathogenicity | — |