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中文人类
C2CD3 - C2 Domain Containing 3 Centriole Elongation Regulator
Alias:
OFD14
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这个基因编码一个蛋白质，作为中心粒伸长的调节因子。研究其正模小鼠蛋白质发现，它促进中心粒的远侧附肢组装，并对于招募其他纤毛生成蛋白质，包括纤毛内运输蛋白质是必需的。这个基因的突变导致口面部四联征十四型（OFD14），这是一种纤毛病，导致口腔、面部和手指的畸形。这个基因的可变剪接导致多个转录变异体。[RefSeq, 2014年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
C2CD3 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
