| Modification Notes |
Dehydrocholesterol reductase (DHCR) proteins are involved in cholesterol biosynthesis. DHCR7, also designated sterol delta-7-reductase or 7-DHC reductase, reduces the C7-C8 double bond of 7-dehydrocholesterol. It is a multi-pass membrane protein localizing to the endoplasmic reticulum (ER). Defects in the DHCR7 gene can cause Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive disorder of sterol metabolism. DHCR24 acts as a catalyst for the reduction of the delta-24 double bond of sterol intermediates. DHCR24, also designated 3-beta-hydroxysterol delta-24-reductase or seladin-1, binds to FAD and is predominantly expressed in adrenal gland and brain. It is a single-pass membrane protein localizing to the ER or Golgi apparatus. Defects in the DHCR24 gene cause cause the autosomal recessive disorder desmosterolosis. |