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PRICKLE1 - prickle planar cell polarity protein 1
- Synonym(s) : EPM1B, FLJ31937, REST/NRSF interacting LIM domain protein, RILP
- Previous symbols and names : prickle homolog 1 (Drosophila), prickle-like 1 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 12q12
- OMIM: 608500
- HGNC: 17019
- UniProtKB: Q96MT3
- Genatlas: PRICKLE1
- GenCC: PRICKLE1
- Ensembl: ENSG00000139174
- IUPHAR-DB: -
- Reactome: Q96MT3
- LOVD: PRICKLE1
Diseases list
- Disease-causing germline mutation(s) in Progressive myoclonic epilepsy type 1
ORPHA:308 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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