PBFE Polyclonal Antibody, 20ul Oligo Pool Mutations in this gene cause

Mutations in this gene cause Schwartz-Jampel syndrome type 2

but its biological validity has not been determined

the CDK inhibitor isoforms and the ARF product encoded by CDKN2A

Diseases associated with MAZ include mental retardation

PBFE Polyclonal Antibody, 20ul Oligo Pool Mutations in this gene causeEnoyl CoA hydratase and 3 hydroxyacyl CoA dehydrogenase by EHHADH is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta oxidation pathway. The N terminal region of the encoded protein contains enoyl CoA hydratase activity while the C terminal region contains 3 hydroxyacyl CoA dehydrogenase activity. Defects in EHHADH are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different