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 |
