Protein Name solute carrier family 19 member 2
Organism Homo sapiens
Gene ID 10560
Gene Symbol

SLC19A2

UniProt O60779 (S19A2_HUMAN), A0A024R8Y5 (A0A024R8Y5_HUMAN), A0A024R928 (A0A024R928_HUMAN)
Relationships Total Number of functionally related compound(s) : 38
Total Number of Articles : 116
Description

solute carrier family 19 member 2

Gene Summary

This gene encodes the thiamin transporter protein. 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

synonyms
  • thiamine transporter 1
  • high affinity thiamine transporter
  • reduced folate carrier protein (RFC) like
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Properties