Mitochondrial thiamine pyrophosphate carrier

SLC25A19
Identifiers
Aliases	SLC25A19, DNC, MCPHA, MUP1, THMD3, THMD4, TPC, solute carrier family 25 member 19
External IDs	OMIM: 606521; MGI: 1914533; GeneCards: SLC25A19
Gene location (Human)
Chr.	Chromosome 17 (human)
End	75,289,510 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	115,519,121 bp
RNA expression pattern
	Top expressed in
	left testis; ; right testis; ; stromal cell of endometrium; ; right adrenal cortex; ; left adrenal cortex; ; appendix; ; granulocyte; ; mucosa of transverse colon; ; apex of heart; ; lymph node;
	Top expressed in
	neural layer of retina; ; right kidney; ; brown adipose tissue; ; saccule; ; temporal muscle; ; muscle of thigh; ; proximal tubule; ; superior frontal gyrus; ; primary visual cortex; ; sternocleidomastoid muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	deoxynucleotide transmembrane transporter activity; thiamine pyrophosphate transmembrane transporter activity; thiamine transmembrane transporter activity; transmembrane transporter activity;
Cellular component	integral component of membrane; nucleus; mitochondrion; membrane; mitochondrial inner membrane; integral component of mitochondrial inner membrane;
Biological process	deoxynucleotide transport; transmembrane transport; thiamine-containing compound metabolic process; mitochondrial transport; thiamine pyrophosphate transmembrane transport; thiamine transmembrane transport; transport;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	60386
	67283
	ENSG00000125454
	ENSMUSG00000020744
	Q9HC21
	Q9DAM5
	NM_001126121; NM_001126122; NM_021734
	NM_001252384; NM_001252394; NM_001252395; NM_001252396; NM_026071
	NP_001119593; NP_001119594; NP_068380
	NP_001239313; NP_001239323; NP_001239324; NP_001239325; NP_080347
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial thiamine pyrophosphate carrier is a protein that in humans is encoded by the SLC25A19 gene.

Clinical significance

Mutations in the SLC25A19 gene are responsible for amish lethal microcephaly.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000125454 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020744 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F (July 2001). "Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC)". Cytogenetics and Cell Genetics. 93 (1–2): 40–42. doi:10.1159/000056945. PMID 11474176. S2CID 44985945.
↑ Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE (March 2001). "The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals". Proceedings of the National Academy of Sciences of the United States of America. 98 (5): 2284–2288. Bibcode:2001PNAS...98.2284D. doi:10.1073/pnas.031430998. PMC 30130. PMID 11226231.
↑ "Entrez Gene: SLC25A19 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19".
↑ Tabarki B, Thabet F, Alfadhel M (1993). "SLC25A19-Related Thiamine Metabolism Dysfunction". In Adam MP, Bick S, Mirzaa GM, Pagon RA (eds.). GeneReviews^®. Seattle (WA): University of Washington, Seattle. PMID 20301539. Retrieved 2026-07-31.

External links

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000125454 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020744 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Iacobazzi_2001-5] Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F (July 2001). "Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC)". Cytogenetics and Cell Genetics. 93 (1–2): 40–42. doi:10.1159/000056945. PMID 11474176. S2CID 44985945.

[Dolce_2001-6] Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE (March 2001). "The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals". Proceedings of the National Academy of Sciences of the United States of America. 98 (5): 2284–2288. Bibcode:2001PNAS...98.2284D. doi:10.1073/pnas.031430998. PMC 30130. PMID 11226231.

[entrez-7] "Entrez Gene: SLC25A19 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19".

[8] Tabarki B, Thabet F, Alfadhel M (1993). "SLC25A19-Related Thiamine Metabolism Dysfunction". In Adam MP, Bick S, Mirzaa GM, Pagon RA (eds.). GeneReviews^®. Seattle (WA): University of Washington, Seattle. PMID 20301539. Retrieved 2026-07-31.

Mitochondrial thiamine pyrophosphate carrier

Clinical significance

See also

References

Further reading

External links