Description
Product Characteristics: Involvement in disease: Defects in ATP10A are a cause of Angelman syndrome (AS), also known as 'happy puppet syndrome'. AS is characterized by features of severe motor and intellectual retardation, microcephaly, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, hyperactivity, hypopigmentation, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, and an unusual facies characterized by macrostomia, a large mandible and open-mouthed expression, a great propensity for protruding the tongue ('tongue thrusting'), and an occipital groove. Subcellular location: Cell membrane, Multi-pass membrane protein. Endoplasmic reticulum membrane. Note: Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B. Tissue specificity: Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.,Phospholipid Transport,Probable phospholipid-transporting ATPase VA, ATPase class V type 10A, ATP10C, ATPVA, ATPVC
Target Information: 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]