Rabbit Anti-SLC25A19 antibody

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DNC; MCPHA; Mitochondrial thiamine pyrophosphate carrier; Mitochondrial uncoupling protein 1; MUP1; Solute carrier family 25 (mitochondrial deoxynucleotide carrier) member 19; Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier) m

Cat:

SL21222R

Species Reactivity：

(predicted: Human,)

Immunogen：

KLH conjugated synthetic peptide derived from human SLC25A19:1-100/320

Format：

Liquid

Storage instructions：

Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

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Unit:

Price: $228.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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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]

Function:
Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.

Tissue Specificity:
Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.

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.

Similarity:
Belongs to the mitochondrial carrier (TC 2.A.29) family.
Contains 3 Solcar repeats.

SWISS:
Q9HC21

Gene ID:
60386

Database links:

Entrez Gene: 60386 Human

Omim: 606521 Human

SwissProt: Q9HC21 Human

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