DISEASES

Disease-gene associations mined from literature

Literature associating CPT1A and carnitine palmitoyltransferase I deficiency

CPT1A [ENSP00000265641]

Carnitine O-palmitoyltransferase 1, liver isoform; Catalyzes the transfer of the acyl group of long-chain fatty acid-CoA conjugates onto carnitine, an essential step for the mitochondrial uptake of long-chain fatty acids and their subsequent beta-oxidation in the mitochondrion. Plays an important role in triglyceride metabolism.

Synonyms:  CPT1A,  CPT1Ap,  hCPT1A,  A0A024R5F4,  CPT1A-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM