EXTL3

Chr 8p21.1

exostosin like glycosyltransferase 3

Aliases:: botv, REGR
MANE:: ENST00000220562.9

OMIM: 605744 ↗NCBI: 2137 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

EXTL3 · O43909

v62025-08-01

Predicted Aligned Error matrix for EXTL3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.7/ 100

Confident

919 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)35%
Low(50–70)7%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

immunoskeletal dysplasia with neurodevelopmental abnormalities
0.77
Skeletal dysplasia - intellectual disability
0.54
neurodegenerative disease
0.27
hereditary disease
0.19
phototoxic dermatitis
0.14
meningioma
0.12
familial meningioma
0.12
retinal disorder
0.08
retinoschisis
0.08
cardiac transplant
0.08

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

Protein function (UniProt)

Exostosin-like 3

Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS) (PubMed:28132690, PubMed:28148688). Initiates HS synthesis by transferring the first N-acetyl-alpha-D-glucosamine (alpha-GlcNAc) residue (GlcNAcT-I activity) to the tetrasaccharide linker (GlcA-Gal-Gal-Xyl-)Ser core linker (PubMed:11390981, PubMed:35676258). May also transfer alpha-GlcNAc residues during HS elongation (GlcNAcT-II activity) (PubMed:11390981, PubMed:35676258). Lacks glucuronyl transferase II (GlcAT-II) activity (PubMed:11390981, PubMed:35676258). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:11390981, PubMed:22727489, PubMed:28132690, PubMed:28148688, PubMed:35676258). Through the synthesis of HS, regulates postnatal pancreatic islet maturation and insulin secretion (By similarity)