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6906 SERPINA7

6906

SERPINA7

serpin family A member 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition serpin family A member 7

研究结论

Date Results Publications
2018-06-16 10:04:00 A new SERPINA7 variant associated with thyroxine-binding globulin deficiency in three siblings. 29733970
2018-03-24 10:44:00 THBG is a potential plasma biomarker for COPD. 28579773
2015-07-25 10:36:00 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. 25361180
2013-08-10 11:45:00 TBG allosteric regulation is entropy driven. The presence of multiple S states may allow more efficient T4 release due to protease activity. 23458682
2012-10-20 10:20:00 the TBG promoter has a role in sustaining transgene expression in liver-specific pattern 22820390

名称对应

Type IDs
Synonymous TBG, TBGQTL
Gene
UniProtKB-ID: THBG_HUMAN
UniprotKB: P05543
UniParc: UPI0000001067
EMBL: Z83850, M14091, CH471120, X64171, L13470, BC020747
Ensembl: ENSG00000123561
KO: hsa:6906
Nucleutide sequences
EMBL-CDS: AAH20747.1, CAA45509.1, EAX02748.1, EAX02747.1, AAA60616.1, AAA16067.1
Ensembl_TRS: ENST00000372563, ENST00000327674
Protein sequencees
Ensembl_PRO: ENSP00000329374, ENSP00000361644
RefSeq: NP_000345.2, XP_006724746.1, XP_005262237.1
Others
UniRef100: UniRef100_P05543
UniRef90: UniRef90_P05543
UniRef50: UniRef50_P05543
UniGene: Hs.76838
CCDS: CCDS14518.1

全选

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研究热度

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