SLC25A15, cDNA Clone

For Research Use Only. Not for use in diagnostic procedures.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of SLC25A15 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

32,736 Da

solute carrier family 25 member 15

mitochondrial ornithine transporter 1

Mitochondrial ornithine transporter 1

ORNT1  [Similar Products]

ORNT1_HUMAN

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

Chromosomal Location of Human Ortholog: 13q14

Cellular Component: mitochondrial inner membrane

Molecular Function: L-ornithine transmembrane transporter activity; structural constituent of ribosome

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

Disease: Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome

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