| Modification Notes |
ATPase class V type 10A (ATP10A), also known as aminophospholipid translocase VA (ATPVA) or probable phospholipid-transporting ATPase VA, is a 1,499 amino acid protein belonging to the cation transport ATPase (P-type) family. Localized to the cell membrane, ATP10A is widely expressed in various tissues, with highest levels in kidney, lung, brain, prostate, testis, ovary and small intestine. ATP10A transports phosphatidylserine and phosphatidylethanolamine from one side of a membrane lipid bilayer to another. The gene encoding ATP10A is an imprinted gene that is maternally expressed. Defects in this gene lead to Angelman syndrome (AS), also known as happy puppet syndrome. AS is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors and severe limitations in speech and language. |