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中文人类
GLA - Galactosidase Alpha
Alias:
GALA
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这个基因编码一个同源二聚糖蛋白，可以水解糖脂质和糖蛋白中的末端α-半乳糖结构。这个酶主要水解脑酰胺三己糖苷，并且可以催化麦芽糖水解成半乳糖和葡萄糖。这个基因中的各种突变影响这个酶的合成、加工和稳定性，导致Fabry病，这是一种罕见的溶酶体储存障碍，由于不能分解α-D-半乳糖脂质部分而引发。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
GLA 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
