Solute Carrier Family 19 (Thiamine Transporter), Member 2

Alternative Names

  • SLC19A2
  • Thiamine Transporter Protein 1
  • THTR1
  • THT1
Back to search Result
OMIM Number

603941

NCBI Gene ID

10560

Uniprot ID

O60779

Length

22,171 bases

No. of Exons

6

No. of isoforms

2

Protein Name

Thiamine transporter 1

Molecular Mass

55400 Da

Amino Acid Count

497

Genomic Location

chr1:169,463,909-169,486,079

Gene Map Locus
1q24.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006996.3:c.1223+1G>ALebanonchr1:169468643PathogenicThiamine-Responsive Megaloblastic Anemia SyndromeNG_008255.1:g.22328G>A; NM_006996.3:c.1223+1G>A768890368
NM_006996.3:c.454_458delGGCATinsTALebanonchr1:169477504:169477508Likely PathogenicThiamine-Responsive Megaloblastic Anemia SyndromeNG_008255.1:g.13463_13467deldelGGCATinsTA; NM_006996.3:c.454_458delGGCATinsTA; NP_008927.1:p.Gly152Ilefs*
NM_006996.3:c.581C>TSaudi Arabiachr1:169477381Uncertain SignificanceThiamine-Responsive Megaloblastic Anemia SyndromeNG_008255.1:g.13590C>T; NM_006996.3:c.581C>T; NP_008927.1:p.Ser194Phe141677505
NM_006996.3:c.725delCLebanonchr1:169477238PathogenicPathogenicThiamine-Responsive Megaloblastic Anemia SyndromeNG_008255.1:g.13734del; NM_006996.3:c.725delG; NP_008927.1:p.Pro242fs15715375445956
© CAGS 2024. All rights reserved.