SLC25A19 Antilichaam

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene.

60386

Q9HC21

Human, Mouse

Recombinant fusion protein containing a sequence corresponding to amino acids 1-80 of human SLC25A19 (NP_068380.3) .

Unconjugated

Primary Antibodies

Other

Affinity purification

Batch dependent

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

None

Blue Ice

Store at -20˚ C. Avoid freeze / thaw cycles.

IgG

SLC25A19

Mitochondrial thiamine pyrophosphate carrier

Homo sapiens

Mitochondrial thiamine pyrophosphate carrier, Mitochondrial uncoupling protein 1, Solute carrier family 25 member 19, SLC25A19, DNC, MUP1

WB, IF

Liquid