SLC19A2

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Solute carrier family 19 (thiamine transporter), member 2
Identifiers
Symbols SLC19A2 ; TC1; THMD1; THT1; THTR1; TRMA
External IDs OMIM603941 MGI1928761 HomoloGene38258 ChEMBL: 3079 GeneCards: SLC19A2 Gene
Orthologs
Species Human Mouse
Entrez 10560 116914
Ensembl ENSG00000117479 ENSMUSG00000040918
UniProt O60779 E9Q2R3
RefSeq (mRNA) NM_006996 NM_001276455
RefSeq (protein) NP_008927 NP_001263384
Location (UCSC) Chr 1:
169.43 – 169.46 Mb
Chr 1:
164.25 – 164.27 Mb
PubMed search [1] [2]

Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene.[1][2][3] SLC19A2 is a thiamine transporter.

In melanocytic cells SLC19A2 gene expression may be regulated by MITF.[4]

Clinical significance[edit]

Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.[5]

References[edit]

  1. ^ "Entrez Gene: solute carrier family 19 (thiamine transporter)". 
  2. ^ Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Fauré S, Barrett T, Buist N, Cohen N (December 1997). "Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping". Am. J. Hum. Genet. 61 (6): 1335–41. doi:10.1086/301642. PMC 1716091. PMID 9399900. 
  3. ^ Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R, McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N (July 1999). "Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness". Nat. Genet. 22 (3): 300–4. doi:10.1038/10372. PMID 10391221. 
  4. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  5. ^ Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F (October 2010). "Thiamine-responsive megaloblastic anemia syndrome". Int. J. Hematol. 92 (3): 524–6. doi:10.1007/s12185-010-0681-y. PMID 20835854. 

Further reading[edit]

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