This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Delta(24)-sterol reductase.
Also protects against amyloid-beta peptide-induced apoptosis. .
Human | |
---|---|
Gene Name: | DHCR24 |
Uniprot: | Q15392 |
Entrez: | 1718 |
Belongs to: |
---|
FAD-binding oxidoreductase/transferase type 4 family |
24-dehydrocholesterol reductaseNbla03646; DCE; desmosterol-to-cholesterol enzyme; Diminuto/dwarf1 homolog; EC 1.3.1.72; KIAA0018SELADIN1; seladin 1,3-beta-hydroxysterol delta-24-reductase; seladin-1; selective AD indicator 1,3 beta-hydroxysterol delta 24-reductase
Mass (kDA):
60.101 kDA
Human | |
---|---|
Location: | 1p32.3 |
Sequence: | 1; NC_000001.11 (54849627..54887195, complement) |
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.
Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.
PMID: 11007892 by Greeve I., et al. The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress.
PMID: 11519011 by Waterham H.R., et al. Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.