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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
DNAH6 - Dynein Axonemal Heavy Chain 6
Alias:
HL2
HL-2
DNHL1
Dnahc6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于动力蛋白家族,其成员编码大型蛋白质,是微管相关马达蛋白复合物的组成部分。该复合物由动力蛋白重链、中间链和轻链组成,可以是轴丝或细胞质。这个蛋白质是一个轴丝动力蛋白重链。它通过使用ATP水解产生的能量参与产生纤毛搏动所需的力。这个基因的突变可能导致原发性纤毛运动障碍(PCD)和内脏异位。[RefSeq,2016年6月提供]
Related ID:
NCBI:1768
ENSEMBL:ENSG00000115423
HGNC:2951
UNIPROT:Q9C0G6
OMIM:603336
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1768
14
77
360018 bp
475.98
323
--
3
8
DNAH6 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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