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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
CCN6 - Cellular Communication Network Factor 6
Alias:
PPD
LIBC
PPAC
PPRD
WISP3
WISP-3
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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WNT1可诱导信号通路(WISP)蛋白质亚家族的一员,属于结缔组织生长因子(CTGF)家族。WNT1是一类介导多种发育过程的富含半胱氨酸、糖基化的信号蛋白家族成员。CTGF家族成员具有四个保守的富含半胱氨酸结构域:胰岛素样生长因子结合域、von Willebrand因子C模块、血栓素域和C端半胱氨酸结样结构域。这个基因在结肠肿瘤中过度表达。它可能是与恶性转化相关的WNT1信号通路中的下游基因。这个基因的突变与进行性假类风湿性发育不良有关,这是一种常染色体隐性骨骼疾病,表明该基因对正常的出生后骨骼生长和软骨内稳态是必不可少的。已经发现这个基因的不同转录变异体编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8838
ENSEMBL:ENSG00000112761
HGNC:12771
UNIPROT:O95389
OMIM:603400
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8838
6
5
16874 bp
39.29
132
2
6
15
CCN6 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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