Mitochondrial ornithine transporter 1
Definition:
References:
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[1]. Magnus Monné, et al. Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site. J Biol Chem. 2012 Mar 9;287(11):7925-34. [Content Brief]
[2]. Nagehan Ersoy Tunalı, et al. A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein. Mol Genet Metab. 2014 May;112(1):25-9. [Content Brief]
[3]. J A Camacho, et al. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet. 1999 Jun;22(2):151-8. [Content Brief]
[4]. Giuseppe Fiermonte, et al. The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem. 2003 Aug 29;278(35):32778-83. [Content Brief]
[5]. Alessandra Tessa, et al. Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Hum Mutat. 2009 May;30(5):741-8. [Content Brief]
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