3Beta-HSD7 Polyclonal Antibody, 100ul Peripheral Blood Separation Tube Sporadic and familial mutations in

Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma

HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates

|subunit:Binds MBD1

The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup

3Beta-HSD7 Polyclonal Antibody, 100ul Peripheral Blood Separation Tube Sporadic and familial mutations inHSD3B7 encodes an enzyme (hydroxy delta 5 steroid dehydrogenase, 3 beta and steroid delta isomerase 7) which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short chain dehydrogenase reductase superfamily. The encoded protein is a membrane associated endoplasmic reticulum protein which is active against 7 alpha hydrosylated sterol substrates. Mutations in HSD3B7 are associated with a congenital