BCKDK Polyclonal Antibody, 50ul Cell Function Analysis Mutations in this gene can

Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14

This protein may act in cellular desmosome-dependent adhesion and signaling pathways

An important paralog of this gene is MYO3B

it is overexpressed in gynecological tumor samples

and cerebellar cysts

BCKDK Polyclonal Antibody, 50ul Cell Function Analysis Mutations in this gene canThe branched chain alpha ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein (branched chain ketoacid dehydrogenase kinase) encoded by BCKDK is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for BCKDK.