SLC25A19
Function
Mitochondrial transporter mediating uptake of thiamine diphosphate into mitochondria. It is not clear if the antiporter activity is affected by the membrane potential or by the proton electrochemical gradient.
Involvement in disease
Microcephaly, Amish type
MCPHA
A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year.
None
The disease is caused by variants affecting the gene represented in this entry.
Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type
THMD4
A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy.
None
The disease is 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 all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.
Cellular localization
- Mitochondrion membrane
- Multi-pass membrane protein
Alternative names
DNC, MUP1, SLC25A19, Mitochondrial thiamine pyrophosphate carrier, Mitochondrial thiamine pyrophosphate transporter, Mitochondrial uncoupling protein 1, Solute carrier family 25 member 19, MTPPT