Orphanet: peroxisomal biogenesis factor 16

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PEX16 - peroxisomal biogenesis factor 16

Synonym(s) :
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 11p11.2
OMIM: 603360
HGNC: 8857
UniProtKB: Q9Y5Y5
Genatlas: PEX16
GenCC: PEX16
Ensembl: ENSG00000121680
IUPHAR-DB: -
Reactome: Q9Y5Y5
LOVD: PEX16

Diseases list

Disease-causing germline mutation(s) in Autosomal recessive ataxia due to PEX16 deficiency ORPHA:642954
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

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (14)

Research activities on this gene

Specialised Social Services

Eurordis directory

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