Orphanet: solute carrier family 25 member 20

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SLC25A20 - solute carrier family 25 member 20

Synonym(s) : CAC, carnitine-acylcarnitine carrier, carnitine/acylcarnitine translocase
Previous symbols and names : CACT, solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Type : gene with protein product
Chromosomal location : 3p21.31
OMIM: 613698
HGNC: 1421
UniProtKB: O43772
Genatlas: SLC25A20
GenCC: SLC25A20
Ensembl: ENSG00000178537
IUPHAR-DB: 1076
Reactome: O43772
LOVD: SLC25A20

Diseases list

Disease-causing germline mutation(s) in Carnitine-acylcarnitine translocase deficiency ORPHA:159

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (71)

Research activities on this gene

Specialised Social Services

Eurordis directory

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