Human solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier) , member 19 ELISA Kit | SLC25A19 elisa kit
Human Mitochondrial thiamine pyrophosphate carrier, SLC25A19 ELISA Kit
NCBI and Uniprot Product Information
NCBI 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. [provided by RefSeq, Jul 2008]
Uniprot Description
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: Mitochondrial; Transporter, SLC family; Transporter; Membrane protein, integral; Membrane protein, multi-pass
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
Research Articles on SLC25A19
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Product Notes
The Human SLC25A19 slc25a19 (Catalog #AAA9328085) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9328085 ELISA Kit recognizes Human SLC25A19. It is sometimes possible for the material contained within the vial of "solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier) , member 19, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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