POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Gene ID: 55624, updated on 11-Apr-2024
Gene type: protein coding
Also known as: MEB; RP76; GNTI.2; LGMD2O; GnT I.2; LGMDR15; MGAT1.2; gnT-I.2

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

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2O MedGen: C3150417OMIM: 613157GeneReviews: Not available	See labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MedGen: C3151519OMIM: 253280GeneReviews: Not available	See labs
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 MedGen: C3150412OMIM: 613151GeneReviews: Not available	See labs
Retinitis pigmentosa 76 MedGen: C4310704OMIM: 617123GeneReviews: Not available	See labs

Genomic context

Location:: 1p34.1

Sequence:: Chromosome: 1; NC_000001.11 (46188683..46220305, complement)

Total number of exons:: 25

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
POMGNT1 homepage - Leiden Muscular Dystrophy pages
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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