3Beta-HSD7 Polyclonal Antibody, 100ul Peripheral Blood Separation Tube hypofibrinogenemia and thrombophilia

hypofibrinogenemia and thrombophilia

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

heart and brain

Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency

3Beta-HSD7 Polyclonal Antibody, 100ul Peripheral Blood Separation Tube hypofibrinogenemia and thrombophiliaHSD3B7 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