Title : The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter.

Pub. Date : 1999 Jul

PMID : 10391222






12 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Thiamine solute carrier family 19 member 2 Homo sapiens
2 The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Thiamine solute carrier family 19 member 2 Homo sapiens
3 Thiamine-responsive megaloblastic anaemia with diabetes and deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defect in thiamine (vitamin B1) transport. Thiamine solute carrier family 19 member 2 Homo sapiens
4 Thiamine-responsive megaloblastic anaemia with diabetes and deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defect in thiamine (vitamin B1) transport. Thiamine solute carrier family 19 member 2 Homo sapiens
5 Thiamine-responsive megaloblastic anaemia with diabetes and deafness (TRMA; MIM 249270) is an autosomal recessive disease thought to be due to a defect in thiamine (vitamin B1) transport. Thiamine solute carrier family 19 member 2 Homo sapiens
6 We have previously demonstrated that fibroblasts from people with TRMA lack high-affinity thiamine transport. Thiamine solute carrier family 19 member 2 Homo sapiens
7 Expression of a gene encoding a known yeast thiamine transporter, THI10 (refs 8-10), in TRMA mutant cells prevents apoptotic cell death in thiamine-depleted medium. Thiamine solute carrier family 19 member 2 Homo sapiens
8 Expression of a gene encoding a known yeast thiamine transporter, THI10 (refs 8-10), in TRMA mutant cells prevents apoptotic cell death in thiamine-depleted medium. Thiamine solute carrier family 19 member 2 Homo sapiens
9 On the basis of these studies, we hypothesized that a defective thiamine transporter causes TRMA. Thiamine solute carrier family 19 member 2 Homo sapiens
10 Here we present evidence that the gene SLC19A2 (for solute carrier family 19 (thiamine transporter), member 2) encodes the first known mammalian thiamine transporter, which we designate thiamine transporter-1 (THTR-1). Thiamine solute carrier family 19 member 2 Homo sapiens
11 Here we present evidence that the gene SLC19A2 (for solute carrier family 19 (thiamine transporter), member 2) encodes the first known mammalian thiamine transporter, which we designate thiamine transporter-1 (THTR-1). Thiamine solute carrier family 19 member 2 Homo sapiens
12 Here we present evidence that the gene SLC19A2 (for solute carrier family 19 (thiamine transporter), member 2) encodes the first known mammalian thiamine transporter, which we designate thiamine transporter-1 (THTR-1). Thiamine solute carrier family 19 member 2 Homo sapiens