solute carrier family 25 member 4
Última actualización 2 de mayo de 2023
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El SLC25A4 gene provides the instructions for making a protein called adenine nucleotide translocase type 1 (ANT1). ANT1 functions in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. This process, called oxidative phosphorylation, converts adenosine diphosphate (ADP) into adenosine triphosphate (ATP), the cell's main energy source. ANT1 forms a channel in the inner membrane of mitochondria. This channel allows ADP into mitochondria and ATP out of mitochondria to be used as energy for the cell. ANT1 may also be a part of another structure in the inner membrane called the mitochondrial permeability transition pore. This structure allows various molecules to pass into mitochondria and is thought to play a role in the self-destruction (apoptosis) of the cell.
Normal function
El SLC25A4 gene provides the instructions for making a protein called adenine nucleotide translocase type 1 (ANT1). ANT1 functions in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. This process, called oxidative phosphorylation, converts adenosine diphosphate (ADP) into adenosine triphosphate (ATP), the cell's main energy source. ANT1 forms a channel in the inner membrane of mitochondria. This channel allows ADP into mitochondria and ATP out of mitochondria to be used as energy for the cell. ANT1 may also be a part of another structure in the inner membrane called the mitochondrial permeability transition pore. This structure allows various molecules to pass into mitochondria and is thought to play a role in the self-destruction (apoptosis) of the cell.
Conditions referring to this gene or chromosome
Otros nombres
AAC1
adenine nucleotide translocator 1 (skeletal muscle)
ADP,ATP carrier protein 1
ADP,ATP carrier protein, heart/skeletal muscle
ADP/ATP translocase 1
ADT1_HUMAN
ANT
ANT 1
ANT1
heart/skeletal muscle ATP/ADP translocator
PEO2
PEO3
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
T1
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Lecturas adicionales y referencias
- solute carrier family 25 member 4; MedlinePlus, National Library of Medicine.
- Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B. Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20.
- Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM. Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum Mol Genet. 2004 May 1;13(9):923-34. doi: 10.1093/hmg/ddh108. Epub 2004 Mar 11.
- Kawamata H, Tiranti V, Magrane J, Chinopoulos C, Manfredi G. adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria. Hum Mol Genet. 2011 Aug 1;20(15):2964-74. doi: 10.1093/hmg/ddr200. Epub 2011 May 17.
- Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet. 2005 Oct 15;14(20):3079-88. doi: 10.1093/hmg/ddi341. Epub 2005 Sep 9.
- Sharer JD. The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. IUBMB Life. 2005 Sep;57(9):607-14. doi: 10.1080/15216540500217735.
- Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-Gonzalez XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC. Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11.
- Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromolecular Med. 2003;3(3):129-46. doi: 10.1385/NMM:3:3:129.
- Yu Wai Man CY, Chinnery PF, Griffiths PG. Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. Neuromuscul Disord. 2005 Jan;15(1):17-23. doi: 10.1016/j.nmd.2004.10.002. Epub 2004 Nov 26.
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