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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
ODAD4 - Outer Dynein Arm Docking Complex Subunit 4
Alias:
TTC25
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个含有四肽重复结构的蛋白质,该蛋白质定位到纤毛轴突,并在外部肌动蛋白臂与纤毛对接中发挥作用。这个基因的突变导致纤毛运动严重减少,并引发CILD35(原发性纤毛运动障碍,35型)。原发性纤毛运动障碍通常与反复发作的呼吸道感染、不活动的精子症和反位心伴发;左右身体对称性颠倒。可变剪接导致多个转录变异体,编码不同的异构体。[RefSeq,2017年4月提供]
Related ID:
NCBI:83538
ENSEMBL:ENSG00000204815
HGNC:25280
UNIPROT:Q96NG3
OMIM:617095
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83538
2
12
35887 bp
76.66
20
4
4
5
ODAD4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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Link
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References Literature
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