Phospholipid-transporting ATPase VA also known as ATPase class V type 10A or aminophospholipid translocase VA is an
enzyme that in humans is encoded by the ''ATP10A''
gene.
Function
The protein encoded by ''ATP10A'' belongs to the family of P-type cation transport
ATPase
ATPases (, Adenosine 5'-TriPhosphatase, adenylpyrophosphatase, ATP monophosphatase, triphosphatase, SV40 T-antigen, ATP hydrolase, complex V (mitochondrial electron transport), (Ca2+ + Mg2+)-ATPase, HCO3−-ATPase, adenosine triphosphatase) are ...
s, 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
Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no f ...
, also known as 'happy puppet syndrome'.
See also
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Haloacid dehydrogenase superfamily
References
External links
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Further reading
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EC 7.6.2
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