Recombinant Human Mitochondrial ornithine transporter 1 (SLC25A15)

Uniprot Id

Q9Y619

Target Species

Human

Target Name

SLC25A15

Target Full Name

Mitochondrial ornithine transporter 1

Target Function

Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline. The stoichiometry is close to 1:1.

Target Involvement

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH syndrome)

Target Subcellular Location

Mitochondrion inner membrane; Multi-pass membrane protein.

Target Protein Families

Mitochondrial carrier (TC 2.A.29) family

Target Tissue Specificity

Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart.

Target Research Area

others

Target Synonyms

HHH; Mitochondrial ornithine transporter 1; ORC1; Ornithine transporter 1; Ornithine transporter, mitochondrial; ORNT1; ORNT1_HUMAN; SLC25A15; Solute carrier family 25 (Mitochondrial carrier, ornithine transporter) member 15; Solute carrier family 25 member 15

Target Background

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.