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.
Biological Context
Subcellular Location: Mitochondrion membrane (Multi-pass membrane protein)
Tissue Specificity: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain
Disease Association: Microcephaly, Amish type (MCPHA) : A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. [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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Mitochondrial thiamine pyrophosphate carrier (SLC25A19) Protein is a recombinant protein from Homo sapiens (Human), expressed in in vitro E.coli expression system, covering amino acids 1-320aa, with N-terminal 10xHis-tagged tag, molecular weight 37.0kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
