TSHB Chromosome 1
Thyroid stimulating hormone subunit beta
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What This Gene Does
The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimoto's thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"Receptor ligands|Glycoprotein hormone subunits"
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000134200
Associated Conditions (3)
Isolated thyroid-stimulating hormone deficiency
Pituitary hypothyroidism
TSHB-related disorder
Key Variants
RS41312672
Conflicting classifications of pathogenicity
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
Health Risk
RS2101008674
Likely pathogenic
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
Health Risk
RS121918669
Pathogenic
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
Health Risk
RS2526214510
Pathogenic
Health Risk
RS2526216886
Pathogenic
Health Risk
RS755485552
Pathogenic
Isolated thyroid-stimulating hormone deficiency, Pituitary hypothyroidism, Isolated thyroid-stimulating hormone deficiency
Health Risk
RS868637545
Pathogenic
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
Health Risk
RS121918668
Pathogenic/Likely pathogenic
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
Health Risk
RS121918670
Pathogenic/Likely pathogenic
Isolated thyroid-stimulating hormone deficiency, TSHB-related disorder, Isolated thyroid-stimulating hormone deficiency
Health Risk
RS771834192
Pathogenic/Likely pathogenic
Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS41312672 | Health Risk | Conflicting classifications of pathogenicity | Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |
| RS2101008674 | Health Risk | Likely pathogenic | Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |
| RS121918669 | Health Risk | Pathogenic | Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |
| RS2526214510 | Health Risk | Pathogenic | — |
| RS2526216886 | Health Risk | Pathogenic | — |
| RS755485552 | Health Risk | Pathogenic | Isolated thyroid-stimulating hormone deficiency, Pituitary hypothyroidism, Isolated thyroid-stimulating hormone deficiency |
| RS868637545 | Health Risk | Pathogenic | Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |
| RS121918668 | Health Risk | Pathogenic/Likely pathogenic | Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |
| RS121918670 | Health Risk | Pathogenic/Likely pathogenic | Isolated thyroid-stimulating hormone deficiency, TSHB-related disorder, Isolated thyroid-stimulating hormone deficiency |
| RS771834192 | Health Risk | Pathogenic/Likely pathogenic | Isolated thyroid-stimulating hormone deficiency, Isolated thyroid-stimulating hormone deficiency |