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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
DNAH3 - Dynein Axonemal Heavy Chain 3
Alias:
HDHC8
HEL-36
DNAHC3B
HSADHC3
DNAHC3-B
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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,其成员编码作为微管相关马达蛋白复合物组成成分的大型蛋白质。这个复合物由动力蛋白重链、中间链和轻链组成,可以是轴粒或细胞质的。这个蛋白质是一个轴粒动力蛋白重链,参与通过ATP水解提供的能量产生纤毛搏动所需的力。可变剪接导致多个转录变异体,编码不同的异构体。[由RefSeq提供,2016年12月]
Related ID:
NCBI:55567
ENSEMBL:ENSG00000158486
HGNC:2949
UNIPROT:Q8TD57
OMIM:603334
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55567
18
62
226349 bp
470.77
233
--
2
8
DNAH3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
Reset
Acting
Regulation
Detail
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Residues
Reference
Score
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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