SLC25A19 Antibody – Rabbit Polyclonal

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