Search for a gene
POMT1 - protein O-mannosyltransferase 1
- Synonym(s) : dolichyl-phosphate-mannose-protein mannosyltransferase, LGMD2K
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : 9q34.13
- OMIM: 607423
- HGNC: 9202
- UniProtKB: Q9Y6A1
- Genatlas: POMT1
- GenCC: POMT1
- Ensembl: ENSG00000130714
- IUPHAR-DB: -
- Reactome: Q9Y6A1
- LOVD: POMT1
Diseases list
- Disease-causing germline mutation(s) in Congenital muscular dystrophy with cerebellar involvement
ORPHA:370959 
- Disease-causing germline mutation(s) in Congenital muscular dystrophy with intellectual disability
ORPHA:370968 - Disease-causing germline mutation(s) in Congenital muscular dystrophy without intellectual disability
ORPHA:370980 - Disease-causing germline mutation(s) in Muscle-eye-brain disease
ORPHA:588 - Disease-causing germline mutation(s) in POMT1-related limb-girdle muscular dystrophy R11
ORPHA:86812 - Disease-causing germline mutation(s) (loss of function) in Walker-Warburg syndrome
ORPHA:899
: AssessedAdditional information
Patient-centred 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.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.