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PEX2 - peroxisomal biogenesis factor 2
- Synonym(s) : PAF-1, peroxin 2, PMP35, RNF72, Zellweger syndrome, ZWS3
- Previous symbols and names : 'peroxisomal membrane protein 3 (35kD, Zellweger syndrome)', 'peroxisomal membrane protein 3, 35kDa', PXMP3, peroxisomal membrane protein 3 (35kd, zellweger syndrome), peroxisomal membrane protein 3, 35kda
- Type : gene with protein product
- Chromosomal location : 8q21.13
- OMIM: 170993
- HGNC: 9717
- UniProtKB: P28328
- Genatlas: PXMP3
- GenCC: PXMP3
- Ensembl: ENSG00000164751
- IUPHAR-DB: -
- Reactome: P28328
- LOVD: PEX2
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive ataxia due to PEX2 deficiency
ORPHA:642965 
- 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
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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