Tricarboxylate transport protein, mitochondrial
Template:PBB 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 U.S. National Library of Medicine Medical Subject Headings (MeSH)
References
- ^ Heisterkamp N, Mulder MP, Langeveld A, ten Hoeve J, Wang Z, Roe BA, Groffen J (Aug 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Iacobazzi V, Lauria G, Palmieri F (Sep 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ "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. PMID 23561848.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link)
Further reading
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