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{{infobox_gene}}
{{infobox protein
{{infobox protein
|Name=solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|Name=solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
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|LocusSupplementaryData=
|LocusSupplementaryData=
}}
}}
'''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#Carnitine shuttle system|carnitine shuttle system]].
'''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#Carnitine shuttle system|carnitine shuttle system]].


==Function==
==Function==
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[[Image:Acyl-CoA from cytosol to the mitochondrial matrix.svg|thumb|center|400px|Acyl-CoA from cytosol to the mitochondrial matrix]]
[[Image:Acyl-CoA from cytosol to the mitochondrial matrix.svg|thumb|center|400px|Acyl-CoA from cytosol to the mitochondrial matrix]]

==Model organisms==
[[Model organism]]s have been used in the study of SLC25A20 function. A conditional [[knockout mouse]] line called ''Slc25a20<sup>tm1a(EUCOMM)Wtsi</sup>'' was generated at the [[Wellcome Trust Sanger Institute]].<ref name="mgp_reference">{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x |s2cid=85911512 }}</ref> Male and female animals underwent a standardized [[phenotypic screen]]<ref name="IMPCsearch_ref">{{cite web |url=http://www.mousephenotype.org/data/search?q=Slc25a20#fq=*:*&facet=gene |title=International Mouse Phenotyping Consortium}}</ref> to determine the effects of deletion.<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a | doi-access = free }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 | s2cid = 18872015 | doi-access = free }}</ref><ref name="pmid23870131">{{cite journal | vauthors = White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, ((Sanger Institute Mouse Genetics Project)), Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | year = 2013 | pmid = 23870131 | doi = 10.1016/j.cell.2013.06.022 | pmc=3717207}}</ref> Additional screens performed: - In-depth immunological phenotyping<ref name="iii_ref">{{cite web |url= http://www.immunophenotyping.org/data/search?keys=Slc25a20&field_gene_construct_tid=All |title= Infection and Immunity Immunophenotyping (3i) Consortium }}{{Dead link|date=November 2018 |bot=InternetArchiveBot |fix-attempted=yes }}</ref>
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: left;" |
|+ ''Slc25a20'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
|-
| colspan=2; style="text-align: center;" | All data available at.<ref name="IMPCsearch_ref"/><ref name="iii_ref"/>
|-
| Peripheral blood leukocytes 6 Weeks || bgcolor="#488ED3"|Normal

|-
| Insulin || bgcolor="#488ED3"|Normal

|-
| ''[[Haematology]]'' 6 Weeks || bgcolor="#488ED3"|Normal

|-
| Homozygous viability at P14 || bgcolor="#C40000"|Abnormal

|-
| [[Recessive]] lethal study || bgcolor="#488ED3"|Normal

|-
| Body weight || bgcolor="#488ED3"|Normal

|-
| Neurological assessment || bgcolor="#488ED3"|Normal

|-
| Grip strength || bgcolor="#488ED3"|Normal

|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal

|-
| [[Indirect calorimetry]] || bgcolor="#C40000"|Abnormal

|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal

|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal

|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal

|-
| [[Radiography]] || bgcolor="#488ED3"|Normal

|-
| Eye morphology || bgcolor="#488ED3"|Normal

|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal

|-
| ''[[Haematology]]'' 16 Weeks || bgcolor="#488ED3"|Normal

|-
| Peripheral blood leukocytes 16 Weeks || bgcolor="#488ED3"|Normal

|-
| Heart weight || bgcolor="#488ED3"|Normal

|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal

|-
| Cytotoxic T Cell Function || bgcolor="#488ED3"|Normal

|-
| Spleen Immunophenotyping || bgcolor="#488ED3"|Normal

|-
| Mesenteric Lymph Node Immunophenotyping || bgcolor="#488ED3"|Normal

|-
| Bone Marrow Immunophenotyping || bgcolor="#488ED3"|Normal

|-
| Epidermal Immune Composition || bgcolor="#488ED3"|Normal

|-
| Influenza Challenge || bgcolor="#488ED3"|Normal

|-
|}


==References==
==References==
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{{Mitochondrial enzymes}}
{{Mitochondrial enzymes}}


[[Category:Beta oxidation]]
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]


Latest revision as of 19:58, 29 August 2024

SLC25A20
Identifiers
AliasesSLC25A20, CAC, CACT, Carnitine-acylcarnitine translocase, solute carrier family 25 member 20
External IDsOMIM: 613698; MGI: 1928738; HomoloGene: 331; GeneCards: SLC25A20; OMA:SLC25A20 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

788

57279

Ensembl

ENSG00000178537

ENSMUSG00000032602

UniProt

O43772

Q9Z2Z6

RefSeq (mRNA)

NM_000387

NM_020520

RefSeq (protein)

NP_000378

NP_065266

Location (UCSC)Chr 3: 48.86 – 48.9 MbChr 9: 108.54 – 108.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
Identifiers
SymbolSLC25A20
Alt. symbolsCACT
NCBI gene788
HGNC1421
OMIM212138
RefSeqNM_000387
UniProtO43772
Other data
LocusChr. 3 p21.31
Search for
StructuresSwiss-model
DomainsInterPro

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

[edit]

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

[edit]

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).

Acyl-CoA from cytosol to the mitochondrial matrix

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178537 – Ensembl, May 2017
  2. ^ a b c 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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