Orphanet: peroxisomal biogenesis factor 7

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PEX7 - peroxisomal biogenesis factor 7

Synonym(s) : PTS2R, RD, Refsum disease
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 6q23.3
OMIM: 601757
HGNC: 8860
UniProtKB: O00628
Genatlas: PEX7
GenCC: PEX7
Ensembl: ENSG00000112357
IUPHAR-DB: -
Reactome: -
LOVD: PEX7

Diseases list

Disease-causing germline mutation(s) in Refsum disease ORPHA:773
Disease-causing germline mutation(s) in Rhizomelic chondrodysplasia punctata type 1 ORPHA:309789

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (164)

Research activities on this gene

Specialised Social Services

Eurordis directory

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