功能： catalytic activity:ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).,disease:Defects in ATP10A are a cause of Angelman syndrome (AS) [MIM:105830]; 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.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the cation transport ATPase (P-type) family. Type IV subfamily.,tissue specificity:Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane . Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B.
组织表达： Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.
功能： catalytic activity:ATP + H(2)O + phospholipid(In) = ADP + phosphate + phospholipid(Out).,disease:Defects in ATP10A are a cause of Angelman syndrome (AS) [MIM:105830]; 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.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the cation transport ATPase (P-type) family. Type IV subfamily.,tissue specificity:Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane . Exit from the endoplasmic reticulum requires the presence of TMEM30A, but not that of TMEM30B.
组织表达： Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.
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