MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
Gene ID: 4249, updated on 2-Nov-2024Gene type: protein coding
Also known as: GNT-V; GNT-VA; MGAT5A; glcNAc-T V
- See all available tests in GTR for this gene
- Go to complete Gene record for MGAT5
- Go to Variation Viewer for MGAT5 variants
Summary
The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| MGAT5 alters the severity of multiple sclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 2q21.2-q21.3
- Sequence:
- Chromosome: 2; NC_000002.12 (134119935..134454621)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MGAT5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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