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中文人类
RSPH4A - Radial Spoke Head Component 4A
Alias:
RSHL3
CILD11
RSPH6B
dJ412I7.1
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这个基因编码的蛋白质似乎是放射状辐条头的组成部分，这是通过与其他鞭毛藻Chlamydomonas reinhardtii和其他鞭毛虫的相似蛋白质的同源性确定的。放射状辐条沿纤毛、精子和中轴丝规则地间隔排列，由一个细的“柄”和一个球形的“头”组成，在中央一对微管和dynein之间形成一个信号转导支架。这个基因的突变导致原发性纤毛运动障碍1，一种由活动纤毛和精子运动障碍引起的疾病。可选的剪接导致多个转录变异体。[由RefSeq，2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
RSPH4A 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
