NSDHL

Entrez Summary: The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008].
UniProt Summary: Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. {ECO:0000269|PubMed:14506130}.

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: 0/694

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/26
bone	0/26
breast	0/30
central nervous system	0/49
cervix	0/4
colorectal	0/17
esophagus	0/11
fibroblast	0/1
gastric	0/14
kidney	0/18
liver	0/19
lung	0/72
lymphocyte	0/16
ovary	0/25
pancreas	0/22
peripheral nervous system	0/15
plasma cell	0/12
prostate	0/1
skin	0/20
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/28
uterus	0/5

Expression Distribution

C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity
sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity
4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity
4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity
3-beta-hydroxy-delta5-steroid dehydrogenase activity
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
labyrinthine layer blood vessel development
placenta blood vessel development
cholesterol biosynthetic process
secondary alcohol biosynthetic process
labyrinthine layer development
sterol biosynthetic process
hair follicle development
smoothened signaling pathway
skin epidermis development
hair cycle process
molting cycle process
lipid droplet
embryonic placenta development
molting cycle
hair cycle
alcohol biosynthetic process
cholesterol metabolic process
oxidoreductase activity
steroid biosynthetic process
secondary alcohol metabolic process
sterol metabolic process
placenta development
organic hydroxy compound biosynthetic process
steroid metabolic process
alcohol metabolic process
in utero embryonic development
skin development
epidermis development
reproductive structure development
reproductive system development
embryonic organ development
organic hydroxy compound metabolic process
blood vessel development
vasculature development