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中文人类
RSPH3 - Radial Spoke Head 3
Alias:
RSP3
RSHL2
CILD32
dJ111C20.1
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这个基因编码的蛋白质作为蛋白激酶A锚定蛋白发挥作用。这个基因的突变导致原发性纤毛运动障碍，其特点是活动纤毛和精子鞭毛轴丝的缺陷。这个基因的同源基因最初在蓝藻Chlamydomonas中被鉴定出来，编码一个形成活动纤毛和鞭毛结构组件的辐射状辐条蛋白。交替剪接导致多个转录变异体，它们编码不同的异构体。[由RefSeq，2016年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RSPH3 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
