This gene encodes an enzyme that removes the C(7-8) doublenbond in the B ring of sterols and catalyzes the conversion ofn7-dehydrocholesterol to cholesterol. This gene is ubiquitouslynexpressed and its transmembrane protein localizes to thenendoplasmic reticulum membrane and nuclear outer membrane.nMutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); ansyndrome that is metabolically characterized by reduced serumncholesterol levels and elevated serum 7-dehydrocholesterol levelsnand phenotypically characterized by mental retardation, facialndysmorphism, syndactyly of second and third toes, andnholoprosencephaly in severe cases to minimal physical abnormalitiesnand near-normal intelligence in mild cases. Alternative splicingnresults in multiple transcript variants that encode the samenprotein.
应用类型
WB
免疫原
This DHCR7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 437-463 amino acids from the C-terminal region of human DHCR7.
