Orphanet: chromosome 12 open reading frame 65

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C12ORF65 - chromosome 12 open reading frame 65

Synonym(s) : FLJ38663, SPG55
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 12q24.31
OMIM: 613541
HGNC: 26784
UniProtKB: Q9H3J6
Genatlas: C12orf65
Ensembl: ENSG00000130921
IUPHAR-DB: -
Reactome: -
LOVD: C12ORF65

Diseases list

Disease-causing germline mutation(s) in Autosomal recessive spastic paraplegia type 55 ORPHA:320375
Disease-causing germline mutation(s) in Combined oxidative phosphorylation defect type 7 ORPHA:254930

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (80)

Research activities on this gene

Specialised Social Services

Eurordis directory

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