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中文人类
CFAP57 - Cilia And Flagella Associated Protein 57
Alias:
VWS2
WDR65
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这个基因编码的蛋白质属于含 WD 重复结构域的蛋白质家族，该家族的蛋白质在多种生物途径中参与蛋白质-蛋白质复合物的形成。该家族成员被认为在颅面发育中发挥作用，可能在唇和腭的融合中发挥作用。这个基因的一个错义突变与 Van der Woude 综合征 2 相关。这个基因的可变剪接产生多个转录变体。[由 RefSeq 提供，2011 年 8 月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CFAP57 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
