Carnitine-acylcarnitine translocase

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Structures	Swiss-model
Domains	InterPro

solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Identifiers
Symbol	SLC25A20
Alt. symbols	CACT
NCBI gene	788
HGNC	1421
OMIM	212138
RefSeq	NM_000387
UniProt	O43772
Other data
Locus	Chr. 3 p21.31
Structures
Search for
Structures	Swiss-model
Domains	InterPro

SLC25A20
Identifiers
Aliases	SLC25A20, CAC, CACT, Carnitine-acylcarnitine translocase, solute carrier family 25 member 20
External IDs	OMIM: 613698; MGI: 1928738; HomoloGene: 331; GeneCards: SLC25A20; OMA:SLC25A20 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	48,898,904 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	108,561,840 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; mucosa of transverse colon; ; apex of heart; ; mucosa of ileum; ; granulocyte; ; left ventricle; ; gastrocnemius muscle; ; duodenum; ; jejunal mucosa; ; muscle of thigh;
	Top expressed in
	brown adipose tissue; ; tunica adventitia of aorta; ; interventricular septum; ; intercostal muscle; ; soleus muscle; ; myocardium of ventricle; ; thoracic diaphragm; ; left lobe of liver; ; right ventricle; ; extraocular muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	acyl carnitine transmembrane transporter activity; carnitine:acyl carnitine antiporter activity; carnitine transmembrane transporter activity; transmembrane transporter activity;
Cellular component	membrane; mitochondrion; cytosol; mitochondrial inner membrane; integral component of membrane;
Biological process	carnitine shuttle; acyl carnitine transmembrane transport; mitochondrial transport; carnitine transport; carnitine transmembrane transport; transport;
	Sources:Amigo / QuickGO
Orthologs
	788
	57279
	ENSG00000178537
	ENSMUSG00000032602
	O43772
	Q9Z2Z6
	NM_000387
	NM_020520
	NP_000378
	NP_065266
	Wikidata
View/Edit Human	View/Edit Mouse

Carnitine-acylcarnitine translocase (CACT) is responsible for passive transport of carnitine and carnitine-fatty acid complexes and across the inner mitochondrial membrane as part of the carnitine shuttle system.

Function

Fatty acyl–carnitine can diffuse from the cytosol across the porous outer mitochondrial membrane to the intermembrane space, but must utilize CACT to cross the nonporous inner mitochondrial membrane and reach the mitochondrial matrix. CACT is a cotransporter, returning one molecule of carnitine from the matrix to the intermembrane space as one molecule of fatty acyl–carnitine moves into the matrix.^[5]

Clinical significance

A disorder is associated with carnitine-acylcarnitine translocase deficiency. This disorder disrupts the carnitine shuttle system from moving fatty acids across the mitochondrial membrane, leading to a decrease in fatty acid catabolism. The result is an accumulation of fatty acid within muscles and liver, decreased tolerance to long term exercise, inability to fast for more than a few hours, muscle weakness and wasting, and a strong acidic smell on the breath (due to protein catabolism).

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000178537 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032602 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Principles of biochemistry, 2nd edition, edited by Albert Lehninger, David Nelson, and Michael Cox, Worth Publishers, Inc., New York, 1992, 1012 pp, $67.95". Molecular Reproduction and Development. 37 (4): 477. April 1994. doi:10.1002/mrd.1080370421. ISSN 1040-452X.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000178537 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032602 – Ensembl, 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] "Principles of biochemistry, 2nd edition, edited by Albert Lehninger, David Nelson, and Michael Cox, Worth Publishers, Inc., New York, 1992, 1012 pp, $67.95". Molecular Reproduction and Development. 37 (4): 477. April 1994. doi:10.1002/mrd.1080370421. ISSN 1040-452X.

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