LARGE1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- LARGE1 (HGNC:6511) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- LARGE xylosyl- and glucuronyltransferase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- LARGE
- Alias symbols
- KIAA0609
- %HI
- 4.11(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.99(Read more about gnomAD pLI score)
- LOEUF
- 0.3(Read more about gnomAD LOEUF score)
- Cytoband
- 22q12.3
- Genomic Coordinates
-
GRCh37/hg19: chr22:33668495-34318812 NCBI Ensembl UCSC GRCh38/hg38: chr22:33066663-33922824 NCBI Ensembl UCSC - MANE Select Transcript
- NM_133642.5 ENST00000397394.8 (Read more about MANE Select)
- Function
- 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:22223806, PubMed:15752776, PubMed:15661757, PubMed:25279699, PubMed:25279697, PubMed:23125099, PubMed:21987822). Elongates the glucuronyl-beta-1,4- xylose-beta disaccharide primer structure initiat... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24997
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- muscular dystrophy-dystroglycanopathy Monarch
HI Evidence Comments:
Biallelic variants in the LARGE1 gene have been associated with the diseases Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 and Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6 in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, muscular dystrophy-dystroglycanopathy MONDO:0018276, has been selected for this curation.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)