Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
人类
MYO6 - Myosin VI
Alias:
DFNA22
DFNB37
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个反向运动马达蛋白,它向肌动蛋白纤丝的负端移动,并在细胞内囊泡和细胞器运输中发挥作用。该蛋白质由一个包含ATP结合位点和肌动蛋白结合位点的马达结构域和一个与其它蛋白质相互作用的球状尾组成。这个蛋白质维持内耳毛细胞的结构完整性,这个基因的突变导致非综合征性常染色体显性和隐性听力损失。可变剪接产生多种转录变异体,编码不同的异构体。[由RefSeq,2014年7月提供]
Related ID:
NCBI:4646
ENSEMBL:ENSG00000196586
HGNC:7605
UNIPROT:Q9UM54
OMIM:600970
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4646
15
35
170299 bp
149.69
654
7
19
23
MYO6 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
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
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
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!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top