SERPINA7 Antibody

1. A new SERPINA7 variant associated with thyroxine-binding globulin deficiency in three siblings. PMID: 29733970
2. THBG is a potential plasma biomarker for COPD. PMID: 28579773
3. mutation in a liver-specific enhancer region of the TBG gene caused inherited TBG deficiency. To our knowledge, the present study is the first report of an inherited endocrine disorder caused by a mutation in an enhancer region. PMID: 25361180
4. TBG allosteric regulation is entropy driven. The presence of multiple S states may allow more efficient T4 release due to protease activity. PMID: 23458682
5. the TBG promoter has a role in sustaining transgene expression in liver-specific pattern PMID: 22820390
6. Allosteric modulation of hormone release from thyroxine and corticosteroid-binding globulins. PMID: 21325280
7. Freshly isolated TBG-Chicago exists in loop expelled conformation. At 37C, the protein readily converts to a more stable loop inserted conformation with enhanced heat stability. PMID: 20429632
8. an intragenic A/G polymorphism (125 bp upstream from exon 2) was identified. complete TBG deficiency was homozygous for the polymorphic TBG allele. PMID: 11889160
9. Two novel variants in the thyroxine-binding globulin gene behind the diagnosis of TBG deficiency. homozygous. One involved codon 23 (TCA-->TAA) and the other, codon 223. PMID: 11916615
10. Loop variants of the serpin thyroxine-binding globulin: implications for hormone release upon limited proteolysis. PMID: 11931635
11. guanine deletion at position 1711, codon 201 (Asp) in exon 2 (GAC --> AC) led to a frame shift and premature termination at codon 206, causing a short TBG protein of 205 amino acids (AA) compared to 395 AA of the normal TBG. PMID: 17887925
12. new serpina7 gene variant in three members of the same family results in the replacement of the normal asparagine 233 by isoleucine and, subsequently, in disruption of a glycosylation site PMID: 19415532
13. The first exon (exon 0) is a short noncoding sequence located 1.62 kilobase pairs (kbp) upstream from exon 1. HNF-1 site (located 65 bp upstream of the TSS) is required for the hepatocyte specific expression of the hTBG gene. PMID: 8232304

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HGNC: 11583

OMIM: 300932

KEGG: hsa:6906

STRING: 9606.ENSP00000329374

UniGene: Hs.76838