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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
CLCF1 - Cardiotrophin Like Cytokine Factor 1
Alias:
CLC
NR6
BSF3
NNT1
BSF-3
CISS2
NNT-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是糖蛋白(gp)130细胞因子家族的成员,编码心钠素样细胞因子因子1(CLCF1)。CLCF1与细胞因子样受体因子1(CRLF1)形成异源二聚体复合物。这个二聚体与睫状神经营养因子(CNTF)竞争结合睫状神经营养因子受体(CNTFR)复合物,并激活Jak-STAT信号级联。CLCF1可以通过与可溶性I型CRLF1或可溶性CNTFR形成复合物而从细胞中主动分泌。CLCF1是一种强大的神经营养因子,B细胞的刺激剂和垂体促肾上腺皮质激素功能的神经内分泌调节剂。CLCF1的缺陷导致冷诱导出汗综合征2(CISS2)。这个综合征的特征是暴露在寒冷后出汗过多以及头和脊柱的先天性生理异常。选择性剪接导致编码不同异质体的多种转录变异体。[RefSeq,2009年10月提供]
Related ID:
NCBI:23529
ENSEMBL:ENSG00000175505
HGNC:17412
UNIPROT:Q9UBD9
OMIM:607672
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
23529
2
3
10010 bp
25.18
23
3
6
7
CLCF1 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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