SERPINA7
Chr XX-linkedserpin family A member 7
Also known as: TBG, TBGQTL
This gene encodes thyroxine-binding globulin (TBG), the major thyroid hormone transport protein in serum that carries T4 and T3 in the bloodstream. Mutations cause TBG deficiency, which can range from partial to complete deficiency or excess based on serum TBG levels, with X-linked inheritance. The gene shows low constraint to loss-of-function variants (pLI 0.003), consistent with TBG deficiency typically being a biochemical finding rather than causing severe clinical disease.
Primary Disease Associations & Inheritance
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SERPINA7 · 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 →External Resources
Links to major genomics databases and tools