TCDB is operated by the Saier Lab Bioinformatics Group
Transporter Information:
Name: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
Symbol: SLC25A15
TC: 2.A.29.8.2
Locations: 13q14
Aliases: D13S327, HHH
GenBank: AF112968
Swiss-Prot: Q9Y619
Accession Number: NM_014252
PubMed (10369256): Camacho JA, Obie C, Biery B, Goodman BK, Hu CA, Almashanu S, Steel G, CaseyR, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused bymutations in a gene encoding a mitochondrial ornithine transporter.Nat Genet. 1999 Jun;22(2):151-8. PMID: 10369256 [PubMed - indexed for MEDLINE]

Neurospora crassa ARG13 and Saccharomyces cerevisiae ARG11 encode mitochondrial carrier family (MCF) proteins that transport ornithine across the mitochondrial inner membrane. We used their sequences to identify EST candidates that partially encode orthologous mammalian transporters. We thereby identified such a gene (ORNT1) that maps to 13q14 and whose expression, similar to that of other urea cycle (UC) components, was high in liver and varied with changes in dietary protein. ORNT1 expression restores ornithine metabolism in fibroblasts from patients with hyperammonaemia-hyperornithinaemia-homocitrullinuria (HHH) syndrome. In a survey of 11 HHH probands, we identified 3 ORNT1 mutant alleles that account for 21 of 22 possible mutant ORNT1 genes in our patients: F188delta, which is common in French-Canadian HHH patients and encodes an unstable protein; E180K, which encodes a stable, properly targeted protein that is inactive; and a 13q14 microdeletion. Our results show that ORNT1 encodes the mitochondrial ornithine transporter involved in UC function and is defective in HHH syndrome.

>sp|Q9Y619|ORNT1_HUMAN Mitochondrial ornithine transporter 1 OS=Homo sapiens GN=SLC25A15 PE=1 SV=1