Symbol: Name: ID: |
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 GFS:3750 |
Gene name: | SLC25A19 |
Chromosome: | 17q25 |
Previous Symbols: | |
Previous Names: | solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19 |
Aliases: | DNC, MUP1, TPC |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1914533 | Rat Genome Database ID: | RGD:1359554 |
HGNC ID: | HGNC:14409 | RefSeq IDs: | NM_001126121 |
Entrez Gene ID: | 60386 | Ensembl Gene ID: | ENSG00000125454 |
VEGA IDs: | UniProt ID: | Q9HC21 | |
UCSC ID: | uc002jnw.3 | OMIM ID: | 606521 |
Pubmed: | PMID11474176 PMID 11226231 | ||
CCDS IDs: | CCDSCCDS11720.1 |
Mitochondrial thiamine pyrophosphate carrier is a protein that in humans is encoded by the SLC25A19 gene.
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.
Products for SLC25A19 gene
Catalog | Product Name | Application | Company |
GFS:E03750 | solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; ELISA kit | ELISA | n/a |
GFS:A03750 | solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; Anti | ANTIBODIES | n/a |
GFS:P03750 | solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19; Protien | Protien | n/a |