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

synonyms
GnT, POMGNT1, ENSG00000085998

HGNC
HGNC:19139

Entrez Gene
Gene:55624

ENSEMBL
ENSG00000085998

location
chr: 1
start: 46654353
stop: 46685977
strand: -

OMIM
OMIM:606822: POMGNT1 (Autosomal recessive inheritance,Heterogeneous)
OMIM:253280: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
OMIM:613151: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
OMIM:613157: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
OMIM:617123: Retinitis pigmentosa 76

transcripts
ENST00000371992
ENST00000371984

pathways
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
O-linked glycosylation [NCBI:1268734] [REACTOME:R-HSA-5173105] [PUBMED:22722607] [PUBMED:9673446]
Other types of O-glycan biosynthesis [NCBI:82978] [KEGG:hsa00514] [PUBMED:19429925] [PUBMED:22669261]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]