SLC19A2

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SLC19A2
Identifiers
Aliases SLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 2
External IDs MGI: 1928761 HomoloGene: 38258 GeneCards: SLC19A2
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006996
NM_001319667

NM_001276455
NM_054087

RefSeq (protein)

NP_001306596
NP_008927

n/a

Location (UCSC) Chr 1: 169.46 – 169.49 Mb Chr 1: 164.25 – 164.27 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4][5] SLC19A2 is a thiamine transporter.

In melanocytic cells SLC19A2 gene expression may be regulated by MITF.[6]

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.[7]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: solute carrier family 19 (thiamine transporter)". 
  4. ^ 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 1716091Freely accessible. PMID 9399900. 
  5. ^ 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. 
  6. ^ 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. 
  7. ^ 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]

External links[edit]