Function
Mitochondrial ornithine-citrulline antiporter (Probable). 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).
Biological Context
Subcellular Location: Mitochondrion inner membrane (Multi-pass membrane protein); Mitochondrion membrane (Multi-pass membrane protein)
Tissue Specificity: Highly expressed in liver, pancreas, testis, lung and small intestine. Lower levels are detected in spleen, kidney, brain and heart
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Mitochondrial ornithine transporter 1 (SLC25A15) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-301aa, with N-terminal GST-tagged tag, molecular weight 59.7kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
