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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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DNAH1 - Dynein Axonemal Heavy Chain 1
Alias:
HL11
HDHC7
HL-11
CILD37
DNAHC1
HSRF-1
SPGF18
XLHSRF-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个在内 dynein 臂重链,在放射状轮辐和精子尾的外部双联之间提供结构支持。这个基因中自然发生的突变与原发性纤毛运动障碍和鞭毛的多形态异常有关,导致弱精子症和男性不育。该正交基因的同系物基因的纯合子敲除小鼠是存活的,但精子活力降低且不育。[RefSeq, 2017年2月提供]
Related ID:
NCBI:25981
ENSEMBL:ENSG00000114841
HGNC:2940
UNIPROT:Q9P2D7
OMIM:603332
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
25981
4
78
89573 bp
487.50
1755
4
6
13
DNAH1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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