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中文人类
DYNC2H1 - Dynein Cytoplasmic 2 Heavy Chain 1
Alias:
ATD3
DHC2
DHC1b
DNCH2
DYH1B
SRTD3
SRPS2B
hdhc11
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这个基因编码一种大型细胞质动力蛋白，参与鞭毛的逆向运输，并在鞭毛/鞭毛组装所需的内旗藻内运输中发挥作用。这个基因的突变导致与初级鞭毛功能改变相关的异质性疾病谱，通常涉及多指、骨骼发育异常和多囊肾。可变剪接产生多种转录子变异体，编码不同的蛋白质。[RefSeq，2010年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DYNC2H1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
