SLC25A15

Function

Mitochondrial ornithine-citrulline antiporter (Probable) (PubMed:12807890, PubMed:22262851). Catalyzes the exchange between cytosolic ornithine and mitochondrial citrulline plus an H(+), the proton compensates the positive charge of ornithine thus leading to an electroneutral transport. Plays a crucial role in the urea cycle, by connecting the cytosolic and the intramitochondrial reactions of the urea cycle (Probable) (PubMed:12807890, PubMed:22262851). Lysine and arginine are also transported by the antiport mechanism (Probable) (PubMed:12807890). In addition, catalyzes an electroneutral exchange of ornithine or lysine for H(+), a reaction driven by the pH gradient across the inner membrane (By similarity).

Involvement in disease

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHHS

An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the mitochondrial carrier (TC 2.A.29) family.

Tissue Specificity

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

Cellular localization

• Mitochondrion inner membrane
• Multi-pass membrane protein
• Mitochondrion membrane
• Multi-pass membrane protein

Alternative names

ORC1, ORNT1, SP1855, SLC25A15, Mitochondrial ornithine transporter 1, Solute carrier family 25 member 15

Database links

swissprot:Q9Y619 entrezGene:10166 omim:603861 swissprot:Q5VZD8