Thiamine Transporter Protein 1 (THTR1)

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SLC19A2; TRMA; TC1; THT1; Solute Carrier Family 19 Member 2; Thiamine carrier 1

Thiamine Transporter Protein 1 (THTR1)
Thiamine-responsive megaloblastic anemia syndrome (TRMA), is an early-onset, autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment.The SLC19A2 gene encodes a protein of 497 amino acids predicted to have 12 transmembrane domains. Northern blot analysis detected a 4-kb transcript in all tissues tested, most abundantly in skeletal and cardiac muscle. Labay et al. (1999) identified the SLC19A2 gene by positional cloning. They assembled a P1-derived artificial chromosome (PAC) contig spanning the TRMA candidate region. This clarified the order of genetic markers across the TRMA locus, provided 9 new polymorphic markers, and narrowed the locus to an approximately 400-kb region.

Organism species: Homo sapiens (Human)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Thiamine Transporter Protein 1 (THTR1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Thiamine Transporter Protein 1 (THTR1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Thiamine Transporter Protein 1 (THTR1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Thiamine Transporter Protein 1 (THTR1)CLIA Kit Customized Service Offer
n/aELISA Kit for Thiamine Transporter Protein 1 (THTR1)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Thiamine Transporter Protein 1 (THTR1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Thiamine Transporter Protein 1 (THTR1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Thiamine Transporter Protein 1 (THTR1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Thiamine Transporter Protein 1 (THTR1)CLIA Kit Customized Service Offer
n/aELISA Kit for Thiamine Transporter Protein 1 (THTR1)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Thiamine Transporter Protein 1 (THTR1)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Thiamine Transporter Protein 1 (THTR1)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Thiamine Transporter Protein 1 (THTR1)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Thiamine Transporter Protein 1 (THTR1)CLIA Kit Customized Service Offer
n/aELISA Kit for Thiamine Transporter Protein 1 (THTR1)ELISA Kit Customized Service Offer
  1. "Cloning of the human thiamine transporter, a member of the folate transporter family."J. Biol. Chem. 274:31925-31929(1999) [PubMed] [Europe PMC] [Abstract]
  2. "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness."Nat. Genet. 22:300-304(1999) [PubMed] [Europe PMC] [Abstract]
  3. "The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter."Nat. Genet. 22:305-308(1999) [PubMed] [Europe PMC] [Abstract]
  4. "Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome."Nat. Genet. 22:309-312(1999) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  9. "The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families."Hum. Mutat. 16:37-42(2000) [PubMed] [Europe PMC] [Abstract]