DHCR7
LOCUS ID1717
GENE_SYMBOLDHCR7
GENE NAME7-dehydrocholesterol
SYNONYMNSSLOS
CHROMOSOME11
HOMOLOGENE ID1042
microRNAsNANA
GENE SUMMARY
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and ph

OBSERVATIONS

Complication Evidence PMID
Atherosclerosis1. SNPs in GC and DHCR7 were associated with serum levels of 25(OH)D, but only rs3829251 (DHCR7) influenced progression of subclinical atherosclerosis, as measured by cIMT, in a manner dependent on type 2 diabetes status but independent of 25(OH)D levels24663808