LCT

Chr 2q21.3

lactase

MANE:: ENST00000264162.7

OMIM: 603202 ↗NCBI: 3938 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LCT · P09848

v62025-08-01

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

Mean pLDDT

86.2/ 100

Confident

1,927 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)22%
Low(50–70)7%
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)

Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

congenital lactase deficiency
0.75
lactose intolerance adult type
0.37
obesity disorder
0.36
lactose intolerance
0.32
morbid obesity
0.30
sleep disorder
0.26
Sjogren syndrome
0.26
metabolic syndrome
0.26
cutaneous lupus erythematosus
0.25
nervous system disorder
0.23

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

Protein function (UniProt)

Lactase/phlorizin hydrolase

Broad specificity glycosidase of the intestinal brush border membrane that hydrolyzes lactose, the main sugar in mammalian milk, to produce D-glucose and D-galactose (PubMed:12594539, PubMed:16400612, PubMed:3929764, PubMed:9762914). The mature protein is composed of two domains that catalyze the hydrolysis of beta-glucopyranosides and beta-galactopyranosides, with a preference for hydrophilic aglycones (in lactose and cellobiose) for one domain and hydrophobic aglycones (in phlorizin and glycosylceramides) for the other (PubMed:12594539, PubMed:3929764, PubMed:9762914)