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中文人类
MYO1A - Myosin IA
Alias:
BBMI
MIHC
MYHL
DFNA48
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这个基因编码肌球蛋白超家族的一员。这种蛋白质代表一种非常规肌球蛋白；它不应与传统的骨骼肌肌球蛋白-1 (MYH1) 混淆。非常规肌球蛋白含有传统肌球蛋白的基本结构域，并通过其尾结构域与类成员区分开来。它们作为基于肌动蛋白的分子马达发挥作用。这个基因的突变与常染色体显性耳聋有关。已经发现这个基因的替代剪接变异体。[RefSeq, 2011年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MYO1A 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
