SLC25A29
Description
The SLC25A29 (solute carrier family 25 member 29) is a protein-coding gene located on chromosome 14.
SLC25A29, also known as CACL and C14orf69, is a human protein encoded by the SLC25A29 gene. It belongs to the mitochondrial carrier family of solute carrier proteins.
SLC25A29 transports arginine, lysine, homoarginine, and methylarginine into mitochondria, with lower affinity for ornithine and histidine. It does not transport carnitine or acylcarnitines. SLC25A29 operates via both counter-exchange and uniport mechanisms. It plays a key role in mitochondrial protein synthesis and amino acid degradation by importing these basic amino acids into the mitochondria.
SLC25A29 is also known as C14orf69, CACL, ORNT3.
Associated Diseases
- alpha thalassemia-intellectual disability syndrome type 1
- primary familial polycythemia due to EPO receptor mutation
- macrothrombocytopenia, isolated, 2, autosomal dominant
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- erythrocytosis, familial, 6
- erythrocytosis, familial, 3
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- delta-beta-thalassemia
- thrombocytopenia 4
