DNC; MCPHA; MUP1; THMD3; THMD4; TPC

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

Polyclonal

IgG

Rabbit

Affinity Purification

Store at -20 degree C. Avoid freeze/thaw cycles.

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.

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.

Primary antibody

Western Blot (WB)

WB: 1:500 - 1:2000

Western blot analysis of extracts of HT-29 cells, using SLC25A19 antibody at 1:3000 dilution.
Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (MBS128200) at 1:10000 dilution.
Lysates/proteins: 25ug per lane.
Blocking buffer: 3% nonfat dry milk in TBST.
Detection: ECL Basic Kit.
Exposure time: 30s.

36kDa

solute carrier family 25 member 19

mitochondrial thiamine pyrophosphate carrier

Mitochondrial thiamine pyrophosphate carrier

DNC; MUP1??[Similar Products]

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

Chromosomal Location of Human Ortholog: 17q25.1

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

Molecular Function: deoxynucleotide transmembrane transporter activity; thiamin transmembrane transporter activity

Biological Process: mitochondrial transport; thiamin and derivative metabolic process; thiamin pyrophosphate transport

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

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