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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
小鼠
Gba2 - glucosidase beta 2
Alias:
F630034E04
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有葡萄糖酰鞘氨醇酶活性、葡萄糖转移酶活性和甾醇-beta-葡萄糖苷酶活性。参与几个过程,包括葡萄糖酰鞘氨醇代谢过程、脂质糖基化和蛋白质聚合的调控。位于细胞质中。是高尔基膜和外质网膜的外部成分。在几个结构中表达,包括中枢神经系统、背根神经节、肝脏、肺和神经视网膜。这个基因的人类同源物与遗传性痉挛性截瘫46有关。与人类GBA2(葡萄糖酰鞘氨醇酶β2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:230101
ENSEMBL:ENSMUSG00000028467
UNIPROT:Q69ZF3
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
230101
2
17
11959 bp
103.29
3
11
Gba2 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
MGI
Strain of Origin
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No data available
References Literature
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IF
No Data Found!
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