Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.
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.
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.
Proteins
35511Da
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