TSHB thyroid stimulating hormone subunit beta
Gene ID: 7252, updated on 5-Mar-2024Gene type: protein coding
Also known as: TSH-B; TSH-BETA
- See all available tests in GTR for this gene
- Go to complete Gene record for TSHB
- Go to Variation Viewer for TSHB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Isolated thyroid-stimulating hormone deficiency | See labs |
Genomic context
- Location:
- 1p13.2
- Sequence:
- Chromosome: 1; NC_000001.11 (115029826..115034309)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TSHB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TSHB database
- Variation ViewerRelated Variants
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