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
ENST00000371992.1
ENST00000371984.3

pathways
Mannose type O-glycan biosynthesis [NCBI:1469011] [KEGG:hsa00515] [PUBMED:24786756] [PUBMED:26923585] [PUBMED:27733679] [PUBMED:21945038]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
O-linked glycosylation [NCBI:1268734] [REACTOME:R-HSA-5173105] [PUBMED:9673446] [PUBMED:22722607]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]