ACOX2 Polyclonal Antibody, 100ul Lysosome Mutations in THBD are a

Mutations in THBD are a cause of thromboembolic disease

Gene Ontology (GO) annotations related to PRSS33 include serine-type endopeptidase activity and serine-type peptidase activity

and E3 ubiquitin-protein ligases

MRPS16 encodes a 28S subunit protein that belongs to the ribosomal protein S16P family

ACOX2 Polyclonal Antibody, 100ul Lysosome Mutations in THBD are aThe product of this gene belongs to the acyl CoA oxidase family. It encodes the branched chain acyl CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates and may lead to Zellweger syndrome severe mental retardation and death in children.