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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
THRB - Thyroid Hormone Receptor Beta
Alias:
TRb
GRTH
PRTH
THR1
ERBA2
NR1A2
THRB1
THRB2
TRbeta
THRbeta
TRbeta1
C-ERBA-2
THRbeta1
Thrbeta2
C-ERBA-BETA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种核激素三碘甲状腺原氨酸受体。它是甲状腺激素的几种受体之一,已经证明可以调节甲状腺激素的生物活性。小鼠的敲除研究表明,虽然这些受体具有一定的冗余性,但它们可能调节甲状腺激素的不同功能。这个基因的突变已被证明是全身甲状腺激素抵抗(GTHR)的原因,这是一种以甲状腺肿和循环甲状腺激素(T3-T4)高水平为特征的症状,而甲状腺刺激激素(TSH)正常或略高。已经观察到这个基因的几个可变剪接转录变异体,它们编码相同的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:7068
ENSEMBL:ENSG00000151090
HGNC:11799
UNIPROT:P10828
OMIM:190160
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7068
53
11
378556 bp
52.79
327
5
23
42
THRB Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
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Journal
Year
IF
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