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中文人类
PYGM - Glycogen Phosphorylase, Muscle Associated
Alias:
GSD5
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这个基因编码一种参与糖原分解的肌肉酶。在肝脏和大脑中发现了不同基因编码的非常相似的酶。这个基因的突变与麦卡德尔病（肌磷酸酶缺乏症）有关，这是一种肌肉糖原储存疾病。可变剪接导致多个转录子变异体。[由RefSeq，2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PYGM 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
