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- Table of Contents
Facts about Thiamine transporter 1.
Human | |
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Gene Name: | SLC19A2 |
Uniprot: | O60779 |
Entrez: | 10560 |
Belongs to: |
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reduced folate carrier (RFC) transporter (TC 2.A.48) family |
high affinity thiamine transporter; reduced folate carrier protein (RFC) like; solute carrier family 19 (thiamine transporter), member 2; Solute carrier family 19 member 2; TC1; Thiamine carrier 1; thiamine transporter 1; THT1; ThTr1; ThTr-1; THTR1thTr-1; TRMA
Mass (kDA):
55.4 kDA
Human | |
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Location: | 1q24.2 |
Sequence: | 1; NC_000001.11 (169463909..169485970, complement) |
Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.
Cell membrane; Multi-pass membrane protein.
PMID: 10542220 by Dutta B., et al. Cloning of the human thiamine transporter, a member of the folate transporter family.
PMID: 10391221 by Labay V., et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.