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中文人类
GBE1 - 1,4-alpha-glucan Branching Enzyme 1
Alias:
GBE
APBD
GSD4
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这个基因编码的蛋白质是一种糖原分支酶，它催化α-1,4-连接的葡萄糖单位从糖原链的外端转移到同一或相邻糖原链上的α-1,6位置。糖原链的分支对于增加糖原分子的溶解度以及降低细胞内的渗透压是必要的。这种酶的最高水平存在于肝脏和肌肉中。这个基因的突变与糖原储存病IV型（也称为安德森病）有关。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GBE1 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
