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中文人类
GBA2 - Glucosylceramidase Beta 2
Alias:
AD035
SPG46
NLGase
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这个基因编码一种微粒体β-葡萄糖苷酶，能催化胆汁酸3-O-葡萄糖苷的内源性化合物的水解。在肝脏中确定该蛋白的亚细胞定位的研究表明，该酶主要富集在微粒体部分，似乎局限于内质网。这个推测的跨膜蛋白被认为在碳水化合物运输和代谢中发挥作用。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GBA2 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
