SLC11A1 Chromosome 2
Solute carrier family 11 member 1
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What This Gene Does
This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 11
Locus Type
gene with protein product
Location
2q35
Ensembl
ENSG00000018280
Associated Conditions (2)
Mycobacterium tuberculosis
susceptibility to infection by
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377625960 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2276631 | Health Risk | risk factor | Mycobacterium tuberculosis, susceptibility to infection by, Mycobacterium tuberculosis |