Gene: [11q13/DHCR7] 7-dehydrocholesterol reductase; delta-7-dehydrocholesterol reductase; Smith-Lemli-Opitz syndrome, type 1? (MIM:270400);


COM

Using radiation hybrid mapping, Wassif-1998 showed that the DHCR7 gene is located at 11q12-q13. By fluorescence in situ hybridization mapping, Waterham-1998 assigned the DHCR7 gene to 11q13."

FUN

In cholesterol biosynthesis, the sterol delta-7-reductase converts 7-dehydrocholesterol to cholesterol."

PAT

[1] Children with the Smith-Lemli-Opitz syndrome, a frequent inborn disorder of sterol metabolism, have elevated serum levels and low serum cholesterol levels. So delta-7-sterol reductase is suspected to be defective in this syndrome (Moebius-1998).
[2] Another locus associated with Smith-Lemli-Opitz syndrome was found: GEM:07q321/SLOS."

REF

CLO,SEQ,EXP,LOC "Moebius FF &: PNAS, 95, N4, 1899-1902, 1998
PAT,MEB "Shefer S &: J Clin Invest, 96, 1779-1785, 1995
COD,LOC,PAT,MUT "Wassif CA &: AJHG, 63, 55-62, 1998
CLO,LOC,PAT,MUT "Waterham HR &: AJHG, 63, 329-338, 1998

KEY

ster, devd

CLA

coding, basic

LOC

11 q13.2-.5

MIM

MIM: 602858

EZN

ENZYME: 1.3.1.21