SC5D

Chr 11q23.3-q24.1

sterol-C5-desaturase

MANE:: ENST00000264027.9

OMIM: 602286 ↗NCBI: 6309 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SC5D · O75845

v62025-08-01

Predicted Aligned Error matrix for SC5D — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.7/ 100

Very high

299 residues

Confidence breakdown

Very high(≥ 90)87%
Confident(70–90)4%
Low(50–70)3%
Very low(< 50)6%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Limb disorders

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Disease associations (Open Targets)

lathosterolosis
0.76
Intellectual disability
0.46
cataract
0.46
neurodegenerative disease
0.22
pulmonary vascular congestion
0.22
vertebral column disorder
0.22
hereditary disease
0.19
pituitary gland disorder
0.15
response to antibiotic
0.11
poisoning
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lathosterol oxidase

Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid hormone synthesis (PubMed:10786622, PubMed:38297129). In addition to its essential role in cholesterol biosynthesis, it also indirectly regulates ferroptosis through the production of 7-DHC. By diverting the spread of damage caused by peroxyl radicals from the phospholipid components to its sterol nucleus, 7-DHC prevents this form of cell death (PubMed:38297129, PubMed:38297130)