NAD(P) dependent steroid dehydrogenase-like

Symbol

NSDHL (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
hsd-3 Caenorhabditis elegans
nsdhl Danio rerio
Nsdhl Mus musculus
Nsdhl Rattus norvegicus
ERG26 Saccharomyces cerevisiae
erg26 Schizosaccharomyces pombe

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3832 Gene expression of NSDHL decreases with age Molecular skin Human NSDHL —

GO Terms

GO IDGO TermGO Category
GO:0001942 hair follicle development biological_process
GO:0006694 steroid biosynthetic process biological_process
GO:0006695 cholesterol biosynthetic process biological_process
GO:0007224 smoothened signaling pathway biological_process
GO:0008203 cholesterol metabolic process biological_process
GO:0044281 small molecule metabolic process biological_process
GO:0055114 oxidation-reduction process biological_process
GO:0060716 labyrinthine layer blood vessel development biological_process
GO:0005783 endoplasmic reticulum cellular_component
GO:0005789 endoplasmic reticulum membrane cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0043231 intracellular membrane-bounded organelle cellular_component
GO:0000166 nucleotide binding molecular_function
GO:0003854 3-beta-hydroxy-delta5-steroid dehydrogenase activity molecular_function
GO:0016491 oxidoreductase activity molecular_function
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor molecular_function
GO:0047012 sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity molecular_function