POMT1 protein O-mannosyltransferase 1

Gene ID: 10585, updated on 10-Dec-2024
Gene type: protein coding
Also known as: RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11

Summary

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive limb-girdle muscular dystrophy type 2K MedGen: C1836373OMIM: 609308GeneReviews: Not available	See labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MedGen: C4284790OMIM: 236670GeneReviews: Not available	See labs
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 MedGen: C5436962OMIM: 613155GeneReviews: Not available	See labs

Genomic context

Location:: 9q34.13

Sequence:: Chromosome: 9; NC_000009.12 (131502918..131523799)

Total number of exons:: 21

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 POMT1 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
POMT1 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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