MGAT1 alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Gene ID: 4245, updated on 2-Nov-2024Gene type: protein coding
Also known as: GnTI; MGAT; GLCT1; GLYT1; GNT-1; GNT-I; GLCNAC-TI
- See all available tests in GTR for this gene
- Go to complete Gene record for MGAT1
- Go to Variation Viewer for MGAT1 variants
Summary
There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. GeneReviews: Not available | |
| Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. GeneReviews: Not available | |
| Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene. GeneReviews: Not available |
Genomic context
- Location:
- 5q35.3
- Sequence:
- Chromosome: 5; NC_000005.10 (180784780..180815616, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MGAT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MGAT1 database
- 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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