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中文人类
MYO5A - Myosin VA
Alias:
GS1
MYO5
MYH12
MYR12
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这个基因是三个肌球蛋白V重链基因之一，属于肌球蛋白基因超家族。肌球蛋白V是一类参与细胞质囊泡运输和锚定、纺锤极对齐和mRNA迁移的基于肌动蛋白的电机蛋白。这个基因编码的蛋白质在黑素细胞和神经细胞中丰富。这个基因的突变导致Griscelli综合症1型（GS1）、Griscelli综合症3型（GS3）和神经外胚层黑色素基底膜疾病，或Elejalde病。已经报道了许多可变剪接的转录变异体，编码不同的异构体，但一些变异体的完整性质尚未确定。[由RefSeq，2008年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MYO5A 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
