Carnitine palmitoyltransferase II

CPT2
Identifiers
AliasesCPT2, CPT1, CPTASE, IIAE4, carnitine palmitoyltransferase 2
External IDsOMIM: 600650; MGI: 109176; HomoloGene: 77; GeneCards: CPT2; OMA:CPT2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000098
NM_001330589

NM_009949

RefSeq (protein)

NP_000089
NP_001317518

NP_034079

Location (UCSC)Chr 1: 53.2 – 53.21 MbChr 4: 107.76 – 107.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.[5][6]

Function

Carnitine palmitoyltransferase II precursor (CPT2) is a mitochondrial membrane protein which is transported to the mitochondrial inner membrane. CPT2 together with carnitine palmitoyltransferase I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders and carnitine palmitoyltransferase II deficiency.[6]

Acyl-CoA from cytosol to the mitochondrial matrix

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000157184Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028607Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Minoletti F, Colombo I, Martin AL, Di Donato S, Taroni F, Finocchiaro G, Pandolfo M (Sep 1992). "Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization". Genomics. 13 (4): 1372–1374. doi:10.1016/0888-7543(92)90076-5. PMID 1339389. (Retracted, see doi:10.1006/geno.1994.1606, PMID 7896284)
  6. ^ a b "Entrez Gene: CPT2 carnitine palmitoyltransferase II".

Further reading