Skip to content
GenoLensGenoLens

LARGE1

Chr 22q12.3

LARGE xylosyl- and glucuronyltransferase 1

Aliases:
KIAA0609
MANE:
ENST00000397394.8
OMIM: 603590 ↗NCBI: 9215 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Arthrogryposis

    BIALLELIC, autosomal or pseudoautosomal

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal

  • Cerebellar hypoplasia

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital disorders of glycosylation

    BIALLELIC, autosomal or pseudoautosomal

  • Congenital muscular dystrophy

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Hydrocephalus

    BIALLELIC, autosomal or pseudoautosomal

+9 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • muscular dystrophy-dystroglycanopathy type B6

    0.78

  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6

    0.77

  • muscular dystrophy-dystroglycanopathy, type A

    0.60

  • muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

    0.51

  • muscle-eye-brain disease

    0.48

  • ovarian neoplasm

    0.39

  • congenital muscular dystrophy with intellectual disability

    0.38

  • alcohol drinking

    0.38

  • Intellectual disability

    0.38

  • congenital muscular dystrophy

    0.37

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

Protein function (UniProt)

Xylosyl- and glucuronyltransferase LARGE1

Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-containing extracellular proteins with high affinity (PubMed:15661757, PubMed:15752776, PubMed:21987822, PubMed:22223806, PubMed:23125099, PubMed:25279697, PubMed:25279699). Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:22223806, PubMed:23125099, PubMed:25138275, PubMed:25279697, PubMed:25279699, PubMed:32975514). Requires the phosphorylation of core M3 (O-mannosyl trisaccharide) by POMK to elongate the glucuronyl-beta-1,4-xylose-beta disaccharide primer (PubMed:21987822). Plays a key role in skeletal muscle function and regeneration (By similarity)

Diseases associated with LARGE1

Curated MONDO disease pages that list LARGE1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.