Title : Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity.

Pub. Date : 1998 Oct

PMID : 9856490






3 Functional Relationships(s)
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1 Thiamine-responsive megaloblastic anemia (TRMA, also known as Rogers syndrome, OMIM 249270) is a rare autosomal recessive disorder characterized by a triad of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Thiamine solute carrier family 19 member 2 Homo sapiens
2 The multi-system manifestations of TRMA suggest that thiamine has a pivotal role in a multiplicity of physiological processes. Thiamine solute carrier family 19 member 2 Homo sapiens
3 Mapping the TRMA gene and understanding the molecular basis of the disease might, thus, shed light on the role of thiamine in common disorders such as deafness, anemia, and diabetes. Thiamine solute carrier family 19 member 2 Homo sapiens