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PAFAH1B1 - platelet activating factor acetylhydrolase 1b regulatory subunit 1
- Synonym(s) : LIS1, lissencephaly-1, NudF, PAFAH
- Previous symbols and names : 'platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa', MDCR, MDS, Miller-Dieker syndrome chromosome region, Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa, platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa), platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD), platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)
- Type : gene with protein product
- Chromosomal location : 17p13.3
- OMIM: 601545
- HGNC: 8574
- UniProtKB: P43034
- Genatlas: PAFAH1B1
- GenCC: PAFAH1B1
- Ensembl: ENSG00000007168
- IUPHAR-DB: -
- Reactome: P43034
- LOVD: PAFAH1B1
Diseases list
- Disease-causing germline mutation(s) in Lissencephaly due to LIS1 mutation
ORPHA:95232 
- Disease-causing somatic mutation(s) in Subcortical band heterotopia
ORPHA:99796 - Role in the phenotype of 17p13.3 microduplication syndrome
ORPHA:217385 - Role in the phenotype of Miller-Dieker syndrome
ORPHA:531
: AssessedAdditional information
Patient-centred resources for this gene
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