SLC25A19
Reactivité: Humain, Souris
WB, ELISA
Hôte: Lapin
Polyclonal
PE
Indications d'application
Optimal working dilution should be determined by the investigator.
Restrictions
For Research Use only
Reconstitution
Add 50 μL of distilled water to a final concentration of 1 mg/mL.
Conseil sur la manipulation
Avoid repeated freezing and thawing.
Stock
4 °C/-20 °C
Stockage commentaire
Store lyophilized at 2-8 °C for one month or at -20 °C long term. After reconstitution store the antibody undiluted at 2-8 °C for up to one month or in aliquots at -20 °C long term.
Antigène
SLC25A19
(Solute Carrier Family 25 (Mitochondrial Thiamine Pyrophosphate Carrier), Member 19 (SLC25A19))
anticorps zgc:111878, anticorps 2900089E13Rik, anticorps DNC, anticorps MUP1, anticorps TPC, anticorps MCPHA, anticorps THMD3, anticorps THMD4, anticorps solute carrier family 25 member 19, anticorps solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19, anticorps Slc25a19, anticorps slc25a19, anticorps SLC25A19
Sujet
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.Synonyms: DNC, MUP1, Mitochondrial thiamine pyrophosphate carrier, Mitochondrial uncoupling protein 1, Solute carrier family 25 member 19