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SLC25A15 Ornithine transport across inner mitochondrial membrane, from the cytoplasm to the matrix. Defects in SLC25A15 are the cause of hyperornithinemia- hyperammonemia-homocitrullinuria syndrome (HHH syndrome). It is an 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. Belongs to the mitochondrial carrier family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Mitochondrial; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 13q14.11
Cellular Component: integral to membrane; mitochondrial inner membrane
Molecular Function: L-ornithine transmembrane transporter activity
Biological Process: mitochondrial ornithine transport; mitochondrial transport; urea cycle
Disease: Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome
Reference #:  Q9Y619 (UniProtKB)
Alt. Names/Synonyms: D13S327; HHH; Mitochondrial ornithine transporter 1; ORC1; ornithine transporter 1; ornithine transporter) member 15; ORNT1; SLC25A15; solute carrier family 25 (mitochondrial carrier; Solute carrier family 25 member 15
Gene Symbols: SLC25A15
Molecular weight: 32,736 Da
Basal Isoelectric point: 9.28  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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