SLC25A21
Function
Transports dicarboxylates across the inner membranes of mitochondria by a counter-exchange mechanism (PubMed:11083877). Can transport 2-oxoadipate (2-oxohexanedioate), 2-oxoglutarate, adipate (hexanedioate), glutarate, and to a lesser extent, pimelate (heptanedioate), 2-oxopimelate (2-oxoheptanedioate), 2-aminoadipate (2-aminohexanedioate), oxaloacetate, and citrate (PubMed:11083877). Plays a central role in catabolism of lysine, hydroxylysine, and tryptophan, by transporting common metabolite intermediates (such as 2-oxoadipate) into the mitochondria, where it is converted into acetyl-CoA and can enter the citric acid (TCA) cycle (Probable).
Involvement in disease
Mitochondrial DNA depletion syndrome 18
MTDPS18
An autosomal recessive mitochondrial disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Tissue Specificity
Expressed in placenta, gall bladder and colon.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
Alternative names
ODC, SLC25A21, Mitochondrial 2-oxodicarboxylate carrier, Mitochondrial 2-oxoadipate carrier, Solute carrier family 25 member 21