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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
TG - Thyroglobulin
Alias:
TGN
AITD3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
甲状腺球蛋白(Tg)是一种主要由甲状腺产生的糖蛋白同二聚体。它作为甲状腺激素和三碘甲状腺原氨酸合成的底物,以及甲状腺激素和碘的惰性形式的储存。甲状腺球蛋白从内质网分泌到其碘化部位,然后在滤泡腔中进行后续的甲状腺激素生物合成。此基因的突变导致甲状腺激素异常产生,表现为甲状腺肿,并与中度至重度的先天性甲状腺功能减退症有关。此基因的多态性与自身免疫性甲状腺疾病(AITD)如格雷夫斯病和桥本甲状腺炎的易感性相关。[RefSeq,2009年11月提供]
Related ID:
NCBI:7038
ENSEMBL:ENSG00000042832
HGNC:11764
UNIPROT:P01266
OMIM:188450
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7038
13
48
267942 bp
304.79
664
4
12
28
TG Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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