Solute Carrier Family 25 (Carnitine/Acylcarnitine Translocase), Member 20

Alternative Names

  • SLC25A20
  • Carnitine-Acylcarnitine Translocase
  • CACT
  • Carnitine-Acylcarnitine Carrier
  • CAC
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OMIM Number

613698

NCBI Gene ID

788

Uniprot ID

O43772

Length

41,957 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Mitochondrial carnitine/acylcarnitine carrier protein

Molecular Mass

32944 Da

Amino Acid Count

301

Genomic Location

chr3:48,856,925-48,898,881

Gene Map Locus
3p21.31

Description

This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [From RefSeq]

Molecular Genetics

The SLC25A20 gene, located on chromosome 3p212.31, has nine coding exons spanning 42 kb within the genomic DNA.  The encoded protein consists of 301 amino acids with a molecular mass of 33 kDa.  To date, more than 27 mutations in this gene have been identified in patients with carnitine-acylcarnitine translocase deficiency.  These mutations cause a shortage of the protein; leading to reduced energy production and build-up of fatty acids and long-chain acylcarnitines in cells.  This, in turn, damages the liver, heart, and muscles and leads to some of the features of CACT deficiency, such as hypoglycemia and hypoketosis.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000387.5:c.82G>TUnited Arab EmiratesNC_000003.12:g.48898713C>AUncertain SignificancePathogenicCarnitine-Acylcarnitine Translocase Deficiency; CACTDNG_008171.1:g.5184G>T; NM_000387.5:c.82G>T; NP_000378.1:p.Gly28Cys7473355141302740

Other Reports

Saudi Arabia

Iacobazzi et al. (2004) described an Arab boy who was born to consanguineous parents with carnitine/acylcarnitine translocase deficiency.  A homozygous 713A>G mutation in exon 7 resulting in glutamine 238 to arginine amino acid change was identified in the child.  Both parents were heterozygous for the same mutation.

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