SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 [Homo sapiens] - Gene

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Summary

Official Symbol: SLC25A20provided by HGNC
Official Full Name: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20provided by HGNC
Primary source: HGNC:1421
See related: Ensembl:ENSG00000178537; HPRD:01953; MIM:613698; Vega:OTTHUMG00000133538
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAC; CACT
Summary: 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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 3p21.31

Sequence :: Chromosome: 3; NC_000003.11 (48894356..48936426, complement)

See SLC25A20 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These results show that FOXA and Sp1 sites in HepG2 cells and only the Sp1 site in HEK293 and SK-N-SH cells have a critical role in the transcriptional regulation of the CAC proximal promoter.
Title: Role of FOXA and Sp1 in mitochondrial acylcarnitine carrier gene expression in different cell lines.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
PPARalpha regulates the expression of human SLC25A20 via the peroxisome proliferator responsive element.
Title: Regulation of the human SLC25A20 expression by peroxisome proliferator-activated receptor alpha in human hepatoblastoma cells.
Functional analysis of mutations of residues Pro278 and Ala279 in A. nidulans, together with kinetic data in reconstituted liposomes, suggest a predominant structural role for these amino acids.
Title: Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif.
Report the outcome of two siblings with CACT deficiency.
Title: Prospective treatment in carnitine-acylcarnitine translocase deficiency.
The modulation of CACT expression has consequences for CPT 1 activity, while the biologic effects of acetyl-carnitine are not associated with a generic supply of energy compounds but to the anaplerotic property of the molecule.
Title: Differential carnitine/acylcarnitine translocase expression defines distinct metabolic signatures in skeletal muscle cells.
A deficiency in CACT was treated with a carnitine diet and administration of medium-chain triglycerides.
Title: Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.
The clinical, biochemical, & molecular features of 6 CACT-deficient patients from Italy, Spain, & North America who had significant clinical heterogeneity are reported. 5 novel & 3 previously reported mutations were found.
Title: Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Carnitine-acylcarnitine translocase deficiency

MIM: 212138

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
O43772	Q9H910	HN1L		HPRD	PubMed
BioGRID:107241	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Process	Evidence Code	Pubs
carnitine shuttle	TAS Traceable Author Statement more info
cellular lipid metabolic process	TAS Traceable Author Statement more info
regulation of fatty acid oxidation	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	TAS Traceable Author Statement more info
mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: mitochondrial carnitine/acylcarnitine carrier protein

Names: mitochondrial carnitine/acylcarnitine carrier protein

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008171.1 RefSeqGene

Range

4904..46974

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000387.5 → NP_000378.1 mitochondrial carnitine/acylcarnitine carrier protein

Status: REVIEWED

Source sequence(s)

BC001689, BQ018220, DC360427

Consensus CDS

CCDS2779.1

UniProtKB/Swiss-Prot

O43772

Related

ENSP00000326305, OTTHUMP00000164819, ENST00000319017, OTTHUMT00000257516

Conserved Domains (1) summary

pfam00153
Location:106 – 198
Blast Score: 266

Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

48894356..48936426, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

48952554..48994892, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC134028.10 (9428..51393)	None
genomic	CH471055.1	EAW64929.1
genomic	Y17775.1	CAB55356.1
mRNA	AK301744.1	BAG63207.1
mRNA	AK312962.1	BAG35801.1
mRNA	BC001689.2	AAH01689.1
mRNA	BI913588.1	None
mRNA	BQ018220.1	None
mRNA	DC360427.1	None
mRNA	Y10319.1	CAA71367.1
other-genetic	DQ892599.2	ABM83525.1
other-genetic	DQ895828.2	ABM86754.1