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中文人类
CCDC40 - Coiled-coil Domain Containing 40
Alias:
CILD15
FAP172
CFAP172
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这个基因编码一个对于可移动纤毛功能必需的蛋白质。它通过调节内部动力臂和调节动力蛋白复合物的组装来调节左右轴的正确形成，从而控制纤毛的搏动。这个基因的突变导致纤毛运动障碍15型，这是一种由于纤毛运动缺陷引起的疾病。可变剪接导致多个转录变异体。[由RefSeq，2011年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CCDC40 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
