AlphaFold predicted structure
DHCR7 · Q9UBM7
Mean pLDDT
91.3/ 100
Very high
475 residues
Confidence breakdown
- Very high(≥ 90)85%
- Confident(70–90)8%
- Low(50–70)1%
- Very low(< 50)6%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DHCR7
Chr 11q13.47-dehydrocholesterol reductase
- MANE:
- ENST00000355527.8
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomalCAKUT
BIALLELIC, autosomal or pseudoautosomalClefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalDifferences in sex development
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHoloprosencephaly
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Smith-Lemli-Opitz syndrome
0.87hereditary disease
0.55neurodegenerative disease
0.48Intellectual disability
0.46cataract
0.46Genetic 46,XY disorder of sex development
0.46Small for gestational age
0.41Elevated circulating 7-dehydrocholesterol concentration
0.412-3 toe syndactyly
0.41Primary microcephaly
0.41
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
7-dehydrocholesterol reductase
Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, PubMed:38297129, PubMed:38297130, PubMed:9465114, PubMed:9634533). Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol (By similarity). Modulates ferroptosis (a form of regulated cell death driven by iron-dependent lipid peroxidation) through the metabolic breakdown of the anti-ferroptotic metabolites 7-DHC and 7-DHD which, when accumulated, divert the propagation of peroxyl radical-mediated damage from phospholipid components to its sterol core, protecting plasma and mitochondrial membranes from phospholipid autoxidation (PubMed:38297129, PubMed:38297130)