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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
IYD - Iodotyrosine Deiodinase
Alias:
TDH4
IYD-1
DEHAL1
C6orf71
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种酶,该酶催化单碘和二碘酪氨酸的氧化NADPH依赖性脱碘作用,这些是甲状腺激素产生的卤化副产物。蛋白质的N端作为膜锚定功能。这个基因的突变导致先天性甲状腺功能减退,原因是4型激素生成异常,也称为脱碘酶缺乏症,或碘酪氨酸脱卤素酶缺乏症,或甲状腺激素生成4型。可变剪接产生多个转录变异体。[由RefSeq,2009年9月提供]
Related ID:
NCBI:389434
ENSEMBL:ENSG00000009765
HGNC:21071
UNIPROT:Q6PHW0
OMIM:612025
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
389434
4
5
36958 bp
33.36
71
2
2
8
IYD Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
Organ
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Interactions
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Type
Name
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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