KPYR Polyclonal Antibody, 20ul Protein Modification Mutations in this gene have

Mutations in this gene have been associated with autosomal dominant high myopia (MYP24)

The encoded protein has been found in brain

The CDC42 effector protein 3 is involved in actin cytoskeleton re-organization during cell shape changes

The encoded protein was thought to encode a protein precursor for two different proteins

KPYR Polyclonal Antibody, 20ul Protein Modification Mutations in this gene haveThe protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene.