LARGE1 LARGE xylosyl- and glucuronyltransferase 1
Gene ID: 9215, updated on 13-Apr-2024Gene type: protein coding
Also known as: LARGE; MDC1D; MDDGA6; MDDGB6
- See all available tests in GTR for this gene
- Go to complete Gene record for LARGE1
- Go to Variation Viewer for LARGE1 variants
Summary
This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. GeneReviews: Not available | |
| Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. GeneReviews: Not available | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | See labs |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 | See labs |
| Muscular dystrophy-dystroglycanopathy type B6 | See labs |
Genomic context
- Location:
- 22q12.3
- Sequence:
- Chromosome: 22; NC_000022.11 (33066663..33922824, complement)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LARGE1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LARGE homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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