Log In|Sign Up
中文人类
CCDC88C - Coiled-coil Domain Containing 88C
Alias:
HYC1
DAPLE
HKRP2
SCA40
KIAA1509
Favorite
这个基因编码一个广泛表达的包含螺旋-螺旋结构域的蛋白质，该蛋白质与dishevelled蛋白相互作用，并作为Wnt信号通路的一个负调控因子。这个基因编码的蛋白质在其C端具有一个PDZ结构域结合基序，通过与dishevelled蛋白相互作用。dishevelled是一种支架蛋白，参与Wnt信号通路调控。Wnt信号通路在胚胎发育、组织维持和癌症进展中起着重要作用。这个基因的突变导致常染色体隐性、原发性非综合征性先天性脑积水；一个以脑室中脑脊液过多累积为特征的疾病。[由RefSeq，2013年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CCDC88C Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
