Solute Carrier Family 19 (Thiamine Transporter), Member 3

Alternative Names

SLC19A3
Thiamine Transporter 2
THTR2

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Length

34,266 bases

No. of Exons

No. of isoforms

Protein Name

Thiamine transporter 2

Molecular Mass

55665 Da

Amino Acid Count

496

Genomic Location

chr2:227,683,763-227,718,028

Gene Map Locus

2q36.3

Description

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_025243.4:c.1264A>G	Qatar	NC_000002.12:g.227688216T>C	Pathogenic	Pathogenic		NG_016359.1:g.34814A>G; NM_025243.4:c.1264A>G; NP_079519.1:p.Thr422Ala	121917884	4563

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External Links

https://medlineplus.gov/genetics/gene/slc19a3/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC19A3

Contributors

Sayeeda Hana: 21.01.2025

Edit History

Sayeeda Hana: 21.01.2025