AT10A Rabbit Polyclonal Antibody, 50ul Cellular Cultivation & Health Management Mutations in this gene have

Mutations in this gene have been associated with Andersen syndrome

this integral membrane protein is sequestered within the cells of muscle and adipose tissue

This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain

members of which mediate signal transduction by binding to phosphoserine-containing proteins

AT10A Rabbit Polyclonal Antibody, 50ul Cellular Cultivation & Health Management Mutations in this gene haveThe 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'.