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中文人类
EPM2A - EPM2A Glucan Phosphatase, Laforin
Alias:
EPM2
MELF
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这个基因编码一个双特异性磷酸酶，可能参与糖原代谢的调节。这种蛋白质作用于复杂碳水化合物，防止糖原过度磷酸化，从而避免形成不溶性的聚集物。这个基因的功能丧失突变与Lafora病有关，这是一种罕见的成人起病的隐性神经退行性疾病，导致肌阵挛性癫痫发作，通常在症状出现后的几年内导致死亡。该疾病的特点是累积称为Lafora小体的非溶性颗粒，这些颗粒来自糖原。[由RefSeq，2018年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
EPM2A 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
