MGP Database

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MGP004151

UniProt Annotations

Entry Information
Gene Namesolute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
Protein EntryORNT1_HUMAN
UniProt IDQ9Y619
SpeciesHuman
Comments
Comment typeDescription
DiseaseHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome) [MIM:238970]: Autosomal recessive disorder resulting in various neurologic symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma caused by hyperammonemia. It causes a functional impairment of the urea cycle. {ECO:0000269|PubMed:10369256, ECO:0000269|PubMed:10805333, ECO:0000269|PubMed:11552031, ECO:0000269|PubMed:11668643, ECO:0000269|PubMed:11814739, ECO:0000269|PubMed:16601889, ECO:0000269|PubMed:19242930}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionOrnithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix.
SimilarityBelongs to the mitochondrial carrier (TC 2.A.29) family. {ECO:0000305}.
SimilarityContains 3 Solcar repeats. {ECO:0000255|PROSITE- ProRule:PRU00282}.
Subcellular LocationMitochondrion inner membrane; Multi-pass membrane protein.
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