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- Table of Contents
Facts about 7-dehydrocholesterol reductase.
Human | |
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Gene Name: | DHCR7 |
Uniprot: | Q9UBM7 |
Entrez: | 1717 |
Belongs to: |
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ERG4/ERG24 family |
7-dehydrocholesterol reductase; 7-DHC reductase; D7SR; delta-7-dehydrocholesterol reductase; EC 1.3.1; EC 1.3.1.21; Putative sterol reductase SR-2; SLOS; Smith-Lemli-Opitz syndrome; Sterol Delta(7)-reductase; sterol delta-7-reductase
Mass (kDA):
54.489 kDA
Human | |
---|---|
Location: | 11q13.4 |
Sequence: | 11; NC_000011.10 (71434411..71448393, complement) |
Most abundant in adrenal gland, liver, testis, and brain.
Endoplasmic reticulum membrane; Multi-pass membrane protein.
PMID: 9683613 by Waterham H.R., et al. Smith-Lemli-Opitz syndrome is caused by mutations in the 7- dehydrocholesterol reductase gene.
PMID: 9465114 by Moebius F.F., et al. Molecular cloning and expression of the human delta7-sterol reductase.