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Transporter Information:
Name: solute carrier family 19 (thiamine transporter), member 2
Symbol: SLC19A2
TC: 2.A.48.2.1
Locations: 1q23.2
Aliases: THTR1
GenBank: AF135488
Swiss-Prot: O60779
Accession Number: NM_006996
PubMed (9399900): Neufeld EJ, Mandel H, Raz T, Szargel R, Yandava CN, Stagg A, Faure S,Barrett T, Buist N, Cohen N. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome,on the long arm of chromosome 1, by homozygosity mapping.Am J Hum Genet. 1997 Dec;61(6):1335-41. PMID: 9399900 [PubMed - indexed for MEDLINE]

Thiamine-responsive megaloblastic anemia, also known as "TRMA" or "Rogers syndrome," 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. On the basis of a linkage analysis of affected families of Alaskan and of Italian origin, we found, using homozygosity mapping, that the TRMA-syndrome gene maps to a region on chromosome 1q23.2-23.3 (maximum LOD score of 3.7 for D1S1679). By use of additional consanguineous kindreds of Israeli-Arab origin, the putative disease-gene interval also has been confirmed and narrowed, suggesting genetic homogeneity. Linkage analysis generated the highest combined LOD-score value, 8.1 at a recombination fraction of 0, with marker D1S2799. Haplotype analysis and recombination events narrowed the TRMA locus to a 16-cM region between markers D1S194 and D1S2786. Several heterozygote parents had diabetes mellitus, deafness, or megaloblastic anemia, which raised the possibility that mutations at this locus predispose carriers in general to these manifestations. Characterization of the metabolic defect of TRMA may shed light on the role of thiamine deficiency in such common diseases.

PubMed (10391221): Labay V, Raz T, Baron D, Mandel H, Williams H, Barrett T, Szargel R,McDonald L, Shalata A, Nosaka K, Gregory S, Cohen N. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associatedwith diabetes mellitus and deafness.Nat Genet. 1999 Jul;22(3):300-4. PMID: 10391221 [PubMed - indexed for MEDLINE]

Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding in varying degrees to thiamine treatment (MIM 249270). We have previously narrowed the TRMA locus from a 16-cM to a 4-cM interval on chromosomal region 1q23.3 (refs 3,4) and this region has been further refined to a 1.4-cM interval. Previous studies have suggested that deficiency in a high-affinity thiamine transporter may cause this disorder. Here we identify the TRMA gene by positional cloning. We 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. Mutations in a new gene, SLC19A2, encoding a putative transmembrane protein homologous to the reduced folate carrier proteins, were found in all affected individuals in six TRMA families, suggesting that a defective thiamine transporter protein (THTR-1) may underlie the TRMA syndrome.

>sp|O60779|THT1_HUMAN Thiamine transporter 1 (THTR-1) (ThTr1) (Thiamine carrier 1) (TC1) - Homo sapiens (Human).