SLC19A2 Antibody – Rabbit Polyclonal

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]

SLC19A2: High-affinity transporter for the intake of thiamine. Defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome (TRMA); also known as Rogers syndrome. TRMA is an autosomal recessive disease with features that include megaloblastic anemia, mild thrombocytopenia and leucopenia, sensorineural deafness and diabetes mellitus. Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter, SLC family; Membrane protein, integral; Membrane protein, multi-pass; Transporter

Chromosomal Location of Human Ortholog: 1q23.3

Cellular Component: integral to membrane; plasma membrane

Molecular Function: folic acid transporter activity; protein binding; thiamin uptake transmembrane transporter activity; thiamin transmembrane transporter activity

Biological Process: vitamin metabolic process; thiamin and derivative metabolic process; thiamin transport; water-soluble vitamin metabolic process; folic acid transport

Disease: Thiamine-responsive Megaloblastic Anemia Syndrome