SLC19A1 Chromosome 21
Solute carrier family 19 member 1
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What This Gene Does
The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
Gene Info
Gene Group
"Minor histocompatibility antigens|Solute carrier family 19"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000173638
Associated Conditions (5)
Gastrointestinal stromal tumor
methotrexate response - Efficacy
Lung cancer
Immunodeficiency 114
folate-responsive
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1051266 | Drug Response | drug response | Gastrointestinal stromal tumor, methotrexate response - Efficacy, Lung cancer |
| RS2077855956 | Health Risk | Pathogenic | Immunodeficiency 114, folate-responsive, Immunodeficiency 114 |