Search for a gene
PLCB1 - phospholipase C beta 1
- Synonym(s) : KIAA0581, phosphoinositide phospholipase C, PLC154, PLC-I
- Previous symbols and names : phospholipase C, beta 1 (phosphoinositide-specific)
- Type : gene with protein product
- Chromosomal location : 20p12.3
- OMIM: 607120
- HGNC: 15917
- UniProtKB: Q9NQ66
- Genatlas: PLCB1
- GenCC: PLCB1
- Ensembl: ENSG00000182621
- IUPHAR-DB: 1403
- Reactome: Q9NQ66
- LOVD: PLCB1
Diseases list
- Disease-causing germline mutation(s) in Malignant migrating focal seizures of infancy
ORPHA:293181 
- Disease-causing germline mutation(s) (loss of function) in Infantile spasms syndrome
ORPHA:3451
: 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.