LRRC32

Chr 11q13.5

leucine rich repeat containing 32

MANE:: ENST00000260061.9

OMIM: 137207 ↗NCBI: 2615 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LRRC32 · Q14392

v62025-08-01

Predicted Aligned Error matrix for LRRC32 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.1/ 100

Confident

662 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)25%
Low(50–70)9%
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)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
Unknown

Disease associations (Open Targets)

cleft palate, proliferative retinopathy, and developmental delay
0.62
asthma
0.50
Hepatitis
0.34
Allergy
0.34
bacterial pneumonia
0.29
herpes zoster
0.28
cleft palate
0.28
Global developmental delay
0.26
Vitreoretinopathy
0.26
Eczematoid dermatitis
0.21

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

Protein function (UniProt)

Transforming growth factor beta activator LRRC32

Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:19651619, PubMed:19750484, PubMed:22278742). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:22278742). Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta (PubMed:22278742). Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs) (PubMed:19651619, PubMed:19750484). Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity)