Fields »

GENE AND PROTEIN SUMMARY

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Gene name

SLC25A19

Description

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

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Protein evidence

Medium

Entrez gene summary

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

14 in total
9 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Medium

-

-

A-549 Lung Medium

-

-

CACO-2 Colon High

-

-

HEK 293 Embryonal kidney High

-

-

HeLa Cervix Medium

-

-

Hep-G2 Liver High

-

-

MCF-7 Pleural effusion High

-

-

PC-3 Bone marrow High

-

-

RT-4 Urinary bladder Medium

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-

U-2 OS Bone Medium

-

-

U-251 MG Brain High

-

-

ANTIBODY SUMMARY

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Pending antibodies