产品名称
AT10A Rabbit Polyclonal Antibody
基因名称
ATP10A ATP10C ATPVA ATPVC KIAA0566
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/57194
Human Swissprot No.
O60312
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O60312/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/11982
Mouse Swissprot No.
O54827
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/O54827
免疫原
Synthesized peptide derived from human AT10A AA range: 1129-1179
特异性
This antibody detects endogenous levels of AT10A at Human/Mouse
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Widely expressed, with highest levels in kidney, followed by lung, brain, prostate, testis, ovary and small intestine.
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.
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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
