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中文人类
MYOZ2 - Myozenin 2
Alias:
CS-1
CMH16
C4orf5
FATZ-2
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这个基因编码的蛋白质属于肌节蛋白家族，与钙调神经磷酸酶结合，这是一种参与多种细胞类型中钙依赖性信号转导的磷酸酶。这些家庭成员将钙调神经磷酸酶固定在心肌和骨骼肌细胞的肌节z线上，因此它们在钙调神经信号传导中起着重要作用。这个基因的突变导致家族性肥厚型心肌病16型，一种遗传性心脏疾病。[RefSeq，2011年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MYOZ2 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
