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ABHD12 - abhydrolase domain containing 12, lysophospholipase
- Synonym(s) : ABHD12A, BEM46L2, dJ965G21.2, DKFZP434P106
- Previous symbols and names : C20orf22, abhydrolase domain containing 12, chromosome 20 open reading frame 22
- Type : gene with protein product
- Chromosomal location : 20p11.21
- OMIM: 613599
- HGNC: 15868
- UniProtKB: Q8N2K0
- Genatlas: ABHD12
- GenCC: ABHD12
- Ensembl: ENSG00000100997
- IUPHAR-DB: 3070
- Reactome: Q8N2K0
- LOVD: ABHD12
Diseases list
- Disease-causing germline mutation(s) in Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
ORPHA:171848 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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