LSS

Chr 21q22.3

lanosterol synthase

Aliases:: OSC
MANE:: ENST00000397728.8

OMIM: 600909 ↗NCBI: 4047 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LSS · P48449

v62025-08-01

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

Mean pLDDT

98.0/ 100

Very high

732 residues

Confidence breakdown

Very high(≥ 90)98%
Confident(70–90)1%
Low(50–70)0%
Very low(< 50)1%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Non-syndromic hypotrichosis
BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Alopecia-intellectual disability syndrome
0.77
Total congenital cataract
0.71
cataract 44
0.68
hypotrichosis 14
0.63
hypotrichosis
0.60
neurodegenerative disease
0.54
early-onset non-syndromic cataract
0.49
hereditary disease
0.45
cataract
0.39
autosomal recessive palmoplantar keratoderma and congenital alopecia
0.38

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

Protein function (UniProt)

Lanosterol synthase

Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed:7639730). Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341)