DHCR7

Entrez Summary: This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009].
UniProt Summary: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

brassinosteroid biosynthetic process
brassinosteroid metabolic process
sterol delta7 reductase activity
7-dehydrocholesterol reductase activity
phytosteroid biosynthetic process
phytosteroid metabolic process
cholesterol biosynthetic process via lathosterol
cholesterol biosynthetic process via desmosterol
nuclear outer membrane
NADP binding
cholesterol biosynthetic process
regulation of sterol biosynthetic process
secondary alcohol biosynthetic process
regulation of cholesterol biosynthetic process
steroid hormone biosynthetic process
sterol biosynthetic process
regulation of cholesterol metabolic process
hormone biosynthetic process
regulation of alcohol biosynthetic process
multicellular organism growth
regulation of steroid biosynthetic process
post-embryonic development
integral component of endoplasmic reticulum membrane
alcohol biosynthetic process
regulation of steroid metabolic process
cholesterol metabolic process
steroid biosynthetic process
secondary alcohol metabolic process
sterol metabolic process
lung development
respiratory tube development
organic hydroxy compound biosynthetic process
regulation of lipid biosynthetic process
respiratory system development
hormone metabolic process
steroid metabolic process
alcohol metabolic process
developmental growth
growth
regulation of lipid metabolic process