Compound hemizygous variants in SERPINA7 gene cause thyroxine ‐binding globulin deficiency

ConclusionAnalyses revealed the p.L303F change the protein stability and flexibility, and it had an impact on the function of TBG, but when coexisted with other variants it might change the conformational structure of the protein and aggravate the damage to the protein. We speculated that the existence of a higher number of variants resulted in lower TBG secretion.

Source: Molecular Genetics & Genomic Medicine - February 8, 2021 Category: Genetics & Stem Cells Authors: Yanlan Fang, Hong Chen, Qingqing Chen, Chunlin Wang, Li Liang Tags: ORIGINAL ARTICLE Source Type: research