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7-dehydrocholesterol reductase; 7-DHC reductase; sterol reductase SR-2; sterol delta(7)-reductase (DHCR7 D7SR)
Function:
1) cholesterol biosynthesis
2) production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol
Cholesterol + NADP+ cholesta-5,7-dien-3-beta-ol + NADPH
Structure: belongs to the ERG4/ERG24 family
Compartment: endoplasmic reticulum
Expression:
- most abundant in adrenal gland, liver, testis, brain
Pathology:
- defects in DHCR7 associated with Smith-Lemli-Opitz syndrome
General
oxidoreductase
phosphoprotein
transmembrane 7 protein
Properties
SIZE: entity length = 475 aa
MW = 54 kD
COMPARTMENT: endoplasmic reticulum
MOTIF: Ser phosphorylation site {S14}
transmembrane domain {40-60}
transmembrane domain {154-174}
transmembrane domain {177-197}
transmembrane domain {266-286}
transmembrane domain {306-326}
transmembrane domain {331-351}
transmembrane domain {420-440}
Database Correlations
OMIM correlations
MORBIDMAP 602858
UniProt Q9UBM7
Pfam PF01222
Entrez Gene 1717
KEGG correlations
ENZYME 1.3.1.21
References
- UniProt :accession Q9UBM7
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/DHCR7