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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
CNTFR - Ciliary Neurotrophic Factor Receptor
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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1型细胞因子受体家族的一员。编码的蛋白质是睫状神经营养因子三聚受体中的配体特异性成分,对神经元的细胞生存、分化和基因表达起关键作用。睫状神经营养因子与编码的蛋白质结合,招募受体的跨膜成分gp130和白血病抑制因子受体,促进信号传导。这个基因的单核苷酸多态性可能与肌肉力量的变化以及饮食障碍的早期发作有关。已经观察到了这个基因的可变剪接转录变异体。[由RefSeq提供,2011年5月]
Related ID:
NCBI:1271
ENSEMBL:ENSG00000122756
HGNC:2170
UNIPROT:P26992
OMIM:118946
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1271
15
10
39420 bp
40.63
10
--
6
7
CNTFR Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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