DISEASES

Disease-gene associations mined from literature

Literature associating ACOX1 and D-bifunctional protein deficiency

ACOX1 [ENSP00000293217]

Peroxisomal acyl-coenzyme A oxidase 1; Catalyzes the desaturation of acyl-CoAs to 2-trans- enoyl-CoAs. Isoform 1 shows highest activity against medium-chain fatty acyl-CoAs and activity decreases with increasing chain length. Isoform 2 is active against a much broader range of substrates and shows activity towards very long-chain acyl-CoAs. Isoform 2 is twice as active as isoform 1 against 16-hydroxy- palmitoyl-CoA and is 25% more active against 1,16-hexadecanodioyl- CoA.

Synonyms:  ACOX1,  ACOX1p,  hACOX1,  I3L0T4,  I3L2U4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM