SLC25A15 Antibody – Rabbit Polyclonal

This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]

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.

Protein type: Transporter, SLC family; Mitochondrial; Membrane protein, multi-pass; Transporter; Membrane protein, integral

Chromosomal Location of Human Ortholog: 13q14

Cellular Component: mitochondrial inner membrane; integral to membrane

Molecular Function: L-ornithine transmembrane transporter activity

Biological Process: amino acid metabolic process; mitochondrial ornithine transport; urea cycle

Disease: Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome