SLC25A19 - solute carrier family 25 member 19 Gene

Homo sapiens

Also known as DNC; TPC; MUP1; MCPHA; THMD3; THMD4

Gene ID: 60386 | Gene type: protein coding

About SLC25A19

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,272,992-75,289,433 (from NCBI)

This gene has 15 transcripts (splice variants), 201 orthologues, 49 paralogues and is associated with 5 phenotypes. Broad expression in testis (RPKM 8.3), lymph node (RPKM 4.5) and 24 other tissues.

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]

SLC25A19 Products(3)

mRNA	Protein	Name
NM_001126121.2	NP_001119593.1	mitochondrial thiamine pyrophosphate carrier
NM_001126122.2	NP_001119594.1	mitochondrial thiamine pyrophosphate carrier
NM_021734.5	NP_068380.3	mitochondrial thiamine pyrophosphate carrier

SLC25A19 Protein Structure

Mito_carr

0
100
200
300
320 a.a.

Protein Preferred Names

Protein Names

mitochondrial thiamine pyrophosphate carrier

Deoxynucleotide carrier

Related Diseases

Diseases

Alias

Microcephaly, Amish Type

Amish Lethal Microcephaly	MCPHA
Amish Microcephaly	Thiamine Metabolism Dysfunction Syndrome 3
Thmd3

Thiamine Metabolism Dysfunction Syndrome 4

Bilateral Striatal Degeneration And Progressive Polyneuropathy	THMD4
Striatal Necrosis, Bilateral, And Progressive Polyneuropathy	Progressive Polyneuropathy With Bilateral Striatal Necrosis
Thiamine Metabolism Dysfunction Syndrome 4, Bilateral Striatal Degeneration And Progressive Polyneuropathy Type	Striatal Necrosis, Bilateral And Progressive Polyneuropathy

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Dry Beriberi

Mitochondrial Complex I Deficiency, Nuclear Type 16

MC1DN16	Nuclear Type Mitochondrial Complex I Deficiency 16
Mitochondrial Complex 1 Deficiency, Nuclear Type 16

Polyneuropathy

Polyneuropathies

Wet Beriberi

Thiamine Deficiency Disease

Beriberi

Thiamine Deficiency	Vitamin B1 Deficiency
Aneurin Deficiency	Thiamine Vitamin Deficiency
Beriberi Nos	Beriberi Due To Vitamin B1 Deficiency
Beriberi Due To Thiamine Vitamin Deficiency	Kakkè

Wernicke Encephalopathy

Wernicke'S Encephalopathy	Wernicke'S Disease
Encephalopathy, Wernicke'S	Wernicke-Korsakoff Syndrome
Encephalopathy Due To Vitamin B1 Deficiency	Wernicke Disease
Wernicke Syndrome

Thiamine Metabolism Dysfunction Syndrome 2

Biotin-Responsive Basal Ganglia Disease	Basal Ganglia Disease, Biotin-Responsive
THMD2	Bbgd
Btbgd	Encephalopathy, Thiamine-Responsive
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type	Thiamine-Responsive Encephalopathy

Wernicke-Korsakoff Syndrome

Korsakoff Syndrome	Transketolase Defect
Korsakoff'S Syndrome	Alcohol-Induced Encephalopathy
Korsakoff'S Psychosis	Korsakov Psychosis
Korsakov'S Psychosis	Alcohol Induced Encephalopathy
Korsakoff Disease	Korsakoff Psychosis

Chronic Polyneuropathy

Myopathy

Muscular Diseases

Myopathies

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13099	SLC25A19 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SLC25A19	VGNC	VGNC:77474
Canis familiaris	SLC25A19	VGNC	VGNC:46298
Mus musculus	SLC25A19	MGD	MGI:1914533
Bos taurus	SLC25A19	VGNC	VGNC:34747
Felis catus	SLC25A19	VGNC	VGNC:65261
Rattus norvegicus	SLC25A19	RGD	RGD:1359554
Others	SLC25A19	NCBI

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