POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Gene ID: 55624, updated on 10-Oct-2024Gene type: protein coding
Also known as: MEB; RP76; GNTI.2; LGMD2O; GnT I.2; LGMDR15; MGAT1.2; gnT-I.2
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- Go to complete Gene record for POMGNT1
- Go to Variation Viewer for POMGNT1 variants
Summary
This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
Associated conditions
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| Description | Tests |
|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2O | not available |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | not available |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | not available |
| Retinitis pigmentosa 76 | not available |
Genomic context
- Location:
- 1p34.1
- Sequence:
- Chromosome: 1; NC_000001.11 (46188683..46220305, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for POMGNT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- POMGNT1 homepage - Leiden Muscular Dystrophy pages
- 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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