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MGP000827

UniProt Annotations

Entry Information
Gene Name24-dehydrocholesterol reductase
Protein EntryDHC24_HUMAN
UniProt IDQ15392
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15392-1; Sequence=Displayed; Name=2; IsoId=Q15392-2; Sequence=VSP_056479; Note=No experimental confirmation available.;
Catalytic Activity5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 5- alpha-cholesta-7,24-dien-3-beta-ol + NADPH.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692;
DiseaseDesmosterolosis (DESMOS) [MIM:602398]: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. {ECO:0000269|PubMed:11519011}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis. {ECO:0000269|PubMed:11007892, ECO:0000269|PubMed:11519011, ECO:0000269|PubMed:22010141}.
PathwaySteroid biosynthesis; cholesterol biosynthesis.
Sequence CautionSequence=BAA02806.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the FAD-binding oxidoreductase/transferase type 4 family. {ECO:0000305}.
SimilarityContains 1 FAD-binding PCMH-type domain. {ECO:0000255|PROSITE-ProRule:PRU00718}.
Subcellular LocationEndoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.
Tissue SpecificityHighly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the brain, strongly expressed in cortical regions, substantia nigra, caudate nucleus, hippocampus, medulla oblongata and pons. In brains affected by Alzheimer disease, expression in the inferior temporal lobe is substantially lower than in the frontal cortex. {ECO:0000269|PubMed:11007892, ECO:0000269|PubMed:11519011}.
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