SLC25A1
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Tricarboxylate transport protein, mitochondrial is a protein that in humans is encoded by the SLC25A1 gene.[1][2][3] Mutations in this gene have been associated with the inborn error of metabolism combined D-2- and L-2-hydroxyglutaric aciduria.[4]
See also
- SLC25A1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
References
- ↑ Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J (August 1996). "Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region". Genomics. 29 (2): 451–6. doi:10.1006/geno.1995.9982. PMID 8666394.
- ↑ Iacobazzi V, Lauria G, Palmieri F (September 1997). "Organization and sequence of the human gene for the mitochondrial citrate transport protein". DNA Seq. 7 (3–4): 127–39. doi:10.3109/10425179709034029. PMID 9254007.
- ↑ "Entrez Gene: SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1".
- ↑ Nota B, Struys EA, Pop A, et al. (2013). "Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria". Am. J. Hum. Genet. 92 (4): 627–631. doi:10.1016/j.ajhg.2013.03.009. PMC 3617390. PMID 23561848.
Further reading
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein–protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein–protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Gong W, Emanuel BS, Collins J, et al. (1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11". Hum. Mol. Genet. 5 (6): 789–800. doi:10.1093/hmg/5.6.789. PMID 8776594.
- Goldmuntz E, Wang Z, Roe BA, Budarf ML (1997). "Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region". Genomics. 33 (2): 271–6. doi:10.1006/geno.1996.0191. PMID 8660975.
- Bonofiglio D, Santoro A, Martello E, et al. (2013). "Mechanisms of divergent effects of activated peroxisome proliferator-activated receptor-γ on mitochondrial citrate carrier expression in 3T3-L1 fibroblasts and mature adipocytes". bbalip. 1831 (6): 1027. doi:10.1016/j.bbalip.2013.01.014. PMID 23370576.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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