SLC5A5 Chromosome 19
Solute carrier family 5 member 5
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What This Gene Does
This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
Gene Info
Gene Group
Solute carrier family 5
Locus Type
gene with protein product
Location
19p13.11
Ensembl
ENSG00000105641
Associated Conditions (5)
Thyroid dyshormonogenesis 1
Acute myeloid leukemia
Inborn genetic diseases
SLC5A5-related disorder
Congenital hypothyroidism
Key Variants
RS117626343
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
RS139977329
Conflicting classifications of pathogenicity
Acute myeloid leukemia, Acute myeloid leukemia
Health Risk
RS140990171
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
RS142014480
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Inborn genetic diseases, Thyroid dyshormonogenesis 1
Health Risk
RS142231563
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
RS145238835
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, SLC5A5-related disorder, Thyroid dyshormonogenesis 1
Health Risk
RS1484899161
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
RS182064161
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
RS186878627
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
RS188874441
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
RS189249326
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, SLC5A5-related disorder, Thyroid dyshormonogenesis 1
Health Risk
RS201774834
Conflicting classifications of pathogenicity
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
Health Risk
All Variants (58)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2514646544 | Health Risk | Pathogenic | — |
| RS2514646705 | Health Risk | Pathogenic | — |
| RS753608267 | Health Risk | Pathogenic | — |
| RS754975346 | Health Risk | Pathogenic | — |
| RS121909180 | Health Risk | Pathogenic/Likely pathogenic | Thyroid dyshormonogenesis 1, Congenital hypothyroidism, Thyroid dyshormonogenesis 1 |
| RS1568423738 | Health Risk | Pathogenic/Likely pathogenic | Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS2514611674 | Health Risk | Pathogenic/Likely pathogenic | SLC5A5-related disorder, Thyroid dyshormonogenesis 1, SLC5A5-related disorder |
| RS371248346 | Health Risk | Pathogenic/Likely pathogenic | Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |