Function
Acts as an activator of the phospholipid scramblase activity of XKR4. This form, which is generated upon caspase-3 (CASP3) cleavage, translocates into the cytoplasm and interacts with XKR4, thereby promoting phosphatidylserine scramblase activity of XKR4 and leading to phosphatidylserine exposure on apoptotic cell surface.
Biological Context
Subcellular Location: Cytoplasm
Tissue Specificity: Widely expressed
Disease Association: Short stature, microcephaly, and endocrine dysfunction (SSMED) : A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Mouse anti-Human XRCC4 Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →

