Symbol: Name: ID: |
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 GFS:849 |
Gene name: | SLC19A2 |
Chromosome: | 1q23.3 |
Previous Symbols: | TRMA |
Previous Names: | |
Aliases: | THTR1 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1928761 | Rat Genome Database ID: | RGD:1308611 |
HGNC ID: | HGNC:10938 | RefSeq IDs: | NM_006996 |
Entrez Gene ID: | 10560 | Ensembl Gene ID: | ENSG00000117479 |
VEGA IDs: | OTTHUMG00000035452 | UniProt ID: | O60779 |
UCSC ID: | uc001gge.3 | OMIM ID: | 603941 |
Pubmed: | PMID9399900 PMID 10391221 | ||
CCDS IDs: | CCDSCCDS1280.1 |
SLC19A2 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. [provided by RefSeq]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for SLC19A2 gene
Catalog | Product Name | Application | Company |
GFS:E00849 | solute carrier family 19 (thiamine transporter), member 2; ELISA kit | ELISA | n/a |
GFS:A00849 | solute carrier family 19 (thiamine transporter), member 2; Anti | ANTIBODIES | n/a |
GFS:P00849 | solute carrier family 19 (thiamine transporter), member 2; Protien | Protien | n/a |