Gene: ATP8A1

Alternate names for this Gene: ATPASEII|ATPIA|ATPP2

Gene Summary: The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4p13

Description of this Gene: ATPase phospholipid transporting 8A1

Type of Gene: protein-coding

rs3749530 in ATP8A1 gene and Corneal Topography PMID 22003120 2011 Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

rs10517025 in ATP8A1 gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.