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中文人类
GAA - Alpha Glucosidase
Alias:
LYAG
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这个基因编码溶酶体的α-葡萄糖苷酶，该酶在溶酶体中降解糖原为葡萄糖是必不可少的。编码的前原原蛋白在蛋白水解过程中被加工成多种中间形式和成熟的酶形式。这个基因中的缺陷是糖原蓄积病II型，也称为庞贝病的原因，这是一种具有广泛临床谱的常染色体隐性障碍。可变剪接导致多种转录变异体。[由RefSeq，2016年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GAA 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
