Anti-SLC25A19 Antibody (aa244-274) IHC-plus; SLC25A19; DNC; THMD4; MCPHA; TPC; Microcephaly; Amish; THMD3; Human SLC25A19

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Human SLC25A19

Immunoaffinity Purified

PBS, 0.09% sodium azide

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of anti-SLC25A19 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Subfamily:-Mitochondrial-carrier">Family: Transporter
Subfamily: Mitochondrial carrier

Immunohistochemistry (IHC - Paraffin), Western Blot (WB)

IHC-P (1:100), WB (1:1000)

Anti-SLC25A19 antibody IHC staining of human small intestine. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody dilution 1:100.

Western blot of SLC25A19 Antibody (C-term) in mouse cerebellum,heart tissue lysates (35 ug/lane).SLC25A19 (arrow) was detected using the purified Pab.

29,217 Da

solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19

mitochondrial thiamine pyrophosphate carrier; microcephaly, Amish; mitochondrial uncoupling protein 1; solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19

Mitochondrial thiamine pyrophosphate carrier

DNC; MUP1??[Similar Products]

TPC_HUMAN

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]

SLC25A19: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria. Defects in SLC25A19 are the cause of microcephaly Amish type (MCPHA); also known as Amish lethal microcephaly. MCPHA is an autosomal recessive metabolic disorder characterized by severe congenital microcephaly, severe 2- ketoglutaric aciduria and death within the first year. Defects in SLC25A19 are the cause of striatal necrosis bilateral and progressive polyneuropathy (SNBPP). A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Belongs to the mitochondrial carrier family.

Protein type: Transporter, SLC family; Membrane protein, multi-pass; Transporter; Mitochondrial; Membrane protein, integral

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: mitochondrial inner membrane; integral to membrane; nucleus

Molecular Function: deoxynucleotide transmembrane transporter activity

Biological Process: deoxynucleotide transport; transmembrane transport

Disease: Thiamine Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration And Progressive Polyneuropathy Type); Microcephaly, Amish Type

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