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SLC25A19 Rabbit pAb

     
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Product Information
Application
  • Applications Legend:
  • E=ELISA
  • WB=Western Blotting
  • IHC=Immunohistochemistry
  • IHC-P=Immunohistochemistry (Paraffin)
  • IP=Immunoprecipitation
  • IF=Immunofluorescence
  • IC=Immunochemistry
  • ICC=Immunocytochemistry
  • FC=Flow Cytometry
  • DB=Dot Blot
IHC-P, IHC-F, IF, E
Primary Accession Q9HC21
Other Accession Q9HC21
Host Rabbit
Clonality Polyclonal
Calculated MW 35511 Da
Physical State Liquid
Immunogen KLH conjugated synthetic peptide derived from human SLC25A19
Epitope Specificity 1-100/320
Isotype IgG
Purity affinity purified by Protein A
Buffer Preservative: 0.02% Proclin300, Constituents: 1% BSA, 0.01M PBS, pH7.4.
SIMILARITY Belongs to the mitochondrial carrier (TC 2.A.29) family. Contains 3 Solcar repeats.
DISEASE The disease is caused by mutations affecting the gene represented in this entry. Disease description:A disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year. The disease is caused by mutations affecting the gene represented in this entry. Disease description:A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Background Descriptions 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. [provided by RefSeq, Jul 2008]
Additional Information
Gene ID 60386
Other Names DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC; TPC_HUMAN; SLC25A19; Mitochondrial thiamine pyrophosphate transporter (MTPPT); Mitochondrial uncoupling protein 1; Solute carrier family 25 member 19; solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19; microcephaly, Amish; solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; Mitochondrial thiamine pyrophosphate carrier; Deoxynucleotide carrier
Dilution IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
StorageStore at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

For Research Use Only. Not For Use In Diagnostic Procedures.

Protein Information
Name SLC25A19 (HGNC:14409)
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.
Cellular Location Mitochondrion membrane; Multi-pass membrane protein
Tissue Location Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.
Research Areas
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