Aliases for SLC25A29 Gene
- Solute Carrier Family 25 Member 29 2 3 4 5
- Solute Carrier Family 25 (Mitochondrial Carnitine/Acylcarnitine Carrier), Member 29 2 3
- Mitochondrial Carnitine/Acylcarnitine Carrier Protein CACL 3 4
- Mitochondrial Basic Amino Acids Transporter 3 4
- Mitochondrial Ornithine Transporter 3 3 4
- C14orf69 3 4
- ORNT3 3 4
External Ids for SLC25A29 Gene
Previous HGNC Symbols for SLC25A29 Gene
Previous GeneCards Identifiers for SLC25A29 Gene
This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
GeneCards Summary for SLC25A29 Gene
SLC25A29 (Solute Carrier Family 25 Member 29) is a Protein Coding gene. Diseases associated with SLC25A29 include Gabriele-De Vries Syndrome and Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include acyl carnitine transmembrane transporter activity. An important paralog of this gene is SLC25A45.
UniProtKB/Swiss-Prot for SLC25A29 Gene
Transports arginine, lysine, homoarginine, methylarginine and, to a much lesser extent, ornithine and histidine (PubMed:24652292). Can restore ornithine transport in cells lacking the primary mitochondrial ornithine transporter SLC25A15 (PubMed:19287344). Does not transport carnitine nor acylcarnitines (PubMed:24652292). Functions by both counter-exchange and uniport mechanisms (PubMed:24652292).