AASD-PPT Polyclonal Antibody, 50ul Mechanical Pipette Mutations in this gene have

Mutations in this gene have been associated with Holt-Oram syndrome

The encoded protein is associated with the calyx of spermatozoa and spermatids

The ADP ribosylation factor GTPase activating protein 3 encoded by ARFGAP3 is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins

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AASD-PPT Polyclonal Antibody, 50ul Mechanical Pipette Mutations in this gene haveAminoadipate semialdehyde dehydrogenase phosphopantetheinyl transferase encoded by AASDHPPT is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha aminoadipate dehydrogenase converts alpha biosynthetic aminoadipate semialdehyde to alpha aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia.