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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
RSPH10B2 - Radial Spoke Head 10 Homolog B2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码鞭毛和可移动纤毛的径向辐头蛋白成分。真核生物鞭毛和可移动纤毛具有共同的9+2结构,其中九个外围微管二聚体(MTD)围绕一个中央对微管(CP),径向辐条连接MTD和CP。径向辐条是一个多蛋白复合体,作为CP和MTD之间的机械化学转换器。径向辐条有助于调节动力蛋白马达的活性,从而调节鞭毛的活力。PMID: 22754630提供了关于径向辐条的良好综述。[由RefSeq,2017年7月提供]
Related ID:
NCBI:728194
ENSEMBL:ENSG00000169402
HGNC:34385
UNIPROT:B2RC85
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
728194
14
21
46666 bp
100.55
22
--
--
3
RSPH10B2 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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