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中文人类
GLB1 - Galactosidase Beta 1
Alias:
EBP
ELNR1
MPS4B
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这个基因编码糖基水解酶35家族蛋白质的一员。可变剪接导致多个转录变异体，其中至少一个编码前原蛋白，该前原蛋白在蛋白水解过程中被加工成成熟的溶酶体酶。这种酶催化从神经节苷脂底物和其他糖复合物中去除末端β连接的半乳糖残基。这个基因的突变可能导致GM1神经节苷脂沉积病和Morquio B综合征。[RefSeq,2015年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GLB1 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
