人类

MYO7A - Myosin VIIA

Alias:
DFNB2
MYU7A
NSRD2
USH1B
DFNA11
MYOVIIA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是肌球蛋白基因家族的成员。肌球蛋白是以具有马达结构域、与肌动蛋白结合的结构域、与其它蛋白质相互作用的颈结构域和作为锚定的尾结构域为特征的机械化学蛋白质。这个基因编码一个具有非常短尾的非典型肌球蛋白。这个基因的缺陷与小鼠shaker-1表型和人Usher综合症1B相关,其特征是耳聋、前庭功能降低(在人类中)和视网膜变性。可变剪接导致多个转录变异体。[由RefSeq,2008年7月提供]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22
49
86996 bp
254.39
3571
15
25
42

MYO7A 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

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!
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Comparison
Al agent
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