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Diminuto
Catalyzes 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. Belongs to the FAD-binding oxidoreductase/transferase type 4 family. Highly 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. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: EC 1.3.1.72; Lipid Metabolism - steroid biosynthesis; Membrane protein, integral; Oxidoreductase |
| Chromosomal Location of human Ortholog: 1p32.3 |
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Cellular Component:
cytoplasm; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi membrane; nucleus
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Molecular Function:
delta24(24-1) sterol reductase activity; delta24-sterol reductase activity; enzyme binding; FAD binding; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; peptide antigen binding; protein binding
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Biological Process:
amyloid precursor protein catabolic process; apoptotic process; cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol; male genitalia development; membrane organization; negative regulation of apoptotic process; negative regulation of cell population proliferation; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; plasminogen activation; protein localization; Ras protein signal transduction; regulation of cell cycle; regulation of neuron death; response to hormone; response to oxidative stress; skin development; steroid metabolic process; tissue development
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Disease: Desmosterolosis
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Reference #:
Q15392
(UniProtKB)
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Alt. Names/Synonyms: 24-dehydrocholesterol reductase; 3 beta-hydroxysterol delta 24-reductase; 3-beta-hydroxysterol delta-24-reductase; DCE; Delta(24)-sterol reductase; desmosterol-to-cholesterol enzyme; DHC24; DHCR24; Diminuto; Diminuto/dwarf1 homolog; KIAA0018; Nbla03646; seladin 1; Seladin-1; SELADIN1; selective AD indicator 1
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Gene Symbols: DHCR24
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Molecular weight:
60,101 Da
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Basal Isoelectric point:
8.42
Predict pI for various phosphorylation states
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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