Recombinant Human SLC25A19 Protein, His&GST-tagged

• Cat.No.: SLC25A19-400H
• Product Overview: Recombinant Human SLC25A19 Protein (Asn13-Val309) with N-His&GST tag was expressed in E. coli.

Specification

• Description: 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.
• Source: E. coli
• Species: Human
• Tag: N-His&GST
• Form: Freeze-dried powder
• Molecular Mass: Predicted Molecular Mass: 63.3 kDa
  Accurate Molecular Mass: 63 kDa
• Protein length: Asn13-Val309
• Purity: > 90%
• Applications: Positive Control; Immunogen; SDS-PAGE; WB.
• Stability: The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 centigrade for 48h, and no obvious degradation and precipitation were observed. The loss rate is less than 5% within the expiration date under appropriate storage condition.
• Storage: Avoid repeated freeze/thaw cycles. Store at 2-8 centigrade for one month. Aliquot and store at -80 centigrade for 12 months.
• Storage Buffer: PBS, pH7.4, containing 0.01% SKL, 1 mM DTT, 5% Trehalose and Proclin300.
• Reconstitution: Reconstitute in sterile water to a concentration of 0.1-1.0 mg/mL. Do not vortex.

Gene Information

• Gene Name: SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 [ Homo sapiens (human) ]
• Official Symbol: SLC25A19
• Synonyms: SLC25A19; solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; MCPHA, microcephaly, Amish, solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19; mitochondrial thiamine pyrophosphate carrier; DNC; MUP1; TPC; microcephaly, Amish; mitochondrial uncoupling protein 1; solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19; MCPHA; THMD3; THMD4
• Gene ID: 60386
• mRNA Refseq: NM_001126121
• Protein Refseq: NP_001119593
• MIM: 606521
• UniProt ID: Q9HC21