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PEX1 - peroxisomal biogenesis factor 1
- Synonym(s) :
- Previous symbols and names : Peroxisome biogenesis factor 1, ZWS, ZWS1, Zellweger syndrome, Zellweger syndrome 1, peroxisome biogenesis factor 1
- Type : gene with protein product
- Chromosomal location : 7q21.2
- OMIM: 602136
- HGNC: 8850
- UniProtKB: O43933
- Genatlas: PEX1
- GenCC: PEX1
- Ensembl: ENSG00000127980
- IUPHAR-DB: -
- Reactome: -
- LOVD: PEX1
Diseases list
- Disease-causing germline mutation(s) in Infantile Refsum disease
ORPHA:772 
- Disease-causing germline mutation(s) in Neonatal adrenoleukodystrophy
ORPHA:44 - Disease-causing germline mutation(s) in Zellweger syndrome
ORPHA:912 - Disease-causing germline mutation(s) (loss of function) in Deafness-enamel hypoplasia-nail defects syndrome
ORPHA:3220
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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