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THMA1
Chr 9ARSECIS binding protein 2
Also known as: SBP2, THMA1
The protein binds to selenocysteine insertion sequences in selenoprotein mRNAs, enabling the incorporation of selenocysteine during translation of selenoproteins including thyroid hormone deiodinases. Autosomal recessive mutations cause abnormal thyroid hormone metabolism due to reduced activity of selenoproteins involved in thyroid hormone processing. This condition primarily affects thyroid hormone regulation and metabolism.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/THMA1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
THMA1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools