| DHCR7 |
| LOCUS ID | 1717 | ||||||||||
| GENE_SYMBOL | DHCR7 | ||||||||||
| GENE NAME | 7-dehydrocholesterol | ||||||||||
| SYNONYMNS | SLOS | ||||||||||
| CHROMOSOME | 11 | ||||||||||
| HOMOLOGENE ID | 1042 |
| microRNAs | NA | NA |
| 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 |
| Atherosclerosis | 1. 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 levels | 24663808 |