Search for a gene
POMGNT1 - protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
- Synonym(s) : FLJ20277, LGMD2O, MGAT1.2, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
- Previous symbols and names : MEB, muscle-eye-brain disease, protein o-linked mannose beta1,2-n-acetylglucosaminyltransferase
- Type : gene with protein product
- Chromosomal location : 1p34.1
- OMIM: 606822
- HGNC: 19139
- UniProtKB: Q8WZA1
- Genatlas: POMGNT1
- Ensembl: ENSG00000085998
- IUPHAR-DB: -
- Reactome: Q8WZA1
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive limb-girdle muscular dystrophy type 2O
- Disease-causing germline mutation(s) in Congenital muscular dystrophy with cerebellar involvement
- Disease-causing germline mutation(s) in Retinitis pigmentosa
- Disease-causing germline mutation(s) in Walker-Warburg syndrome
- Disease-causing germline mutation(s) (loss of function) in Muscle-eye-brain disease
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.