SLCtables

SLC25A19

Protein name: DNC (deoxynucleotide carrier) Aliases: MUP1, TPC, MCPHA Substrates: thiamine pyrophosphate, thiamine monophosphate, (deoxy)nucleotides Transport type: Exchanger / thiamine pyrophosphate, thiamine monophosphate, thiamine; pyrophosphate, (deoxy)nucleotide Tissue and cellular expression: brain, testis, lung, kidney, liver, spleen, skeletal muscle, heart Subcellular expression: inner mitochondrial membrane Disease: congenital Amish microcephaly (MCPHA), neuropathy with bilateral striatal necrosis Locus: 17q25.3 Sequence ID: NP_001119593.1, NM_001126121.1 NP_001119594.1, NM_001126122.1 NP_068380.3, NM_021734.4 Gene ID: 60386 Splice variants: 3 splice variants

TPC_HUMAN (UniProt)

Gene names: SLC25A19, DNC, MUP1
Protein names and data: TPC_HUMAN, Full=Mitochondrial thiamine pyrophosphate carrier, Full=Mitochondrial uncoupling protein 1;Full=Solute carrier family 25 member 19; Length: 320 a.a., Mass: 35511 Da,
fasta formatted sequence
Function: Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria
Disease: (OMIM: 606521 607196 613710) Defects in SLC25A19 are the cause of microcephaly Amish type (MCPHA) [MIM:607196]; 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) [MIM:613710]. A disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy
Cellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Tissue specificity: Expressed in all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain

Database cross-references

UniProt: Q9HC21
NextBio: 65310
OMIM: 606521 607196 613710
Ensembl: ENST00000580994
GeneCard: GC17M075273
TCDB: 2.A.29.16.1
PharmGenUCSF: SLC25A19
Guide to Pharmacology: SLC25A19 (1073)
Mitochondrial nucleotide transporter subfamily (1073)
HGNC: HGNC:14409

Genetic variants

See also Ensembl:ENST00000580994

125 - 125 G -> S (in SNBPP; affects function as shown by complementation studies in yeast). VAR_065125
177 - 177 G -> A (in MCPHA). VAR_014103