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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
Gm2a - GM2 ganglioside activator protein
Alias:
SAP-3
GM2-AP
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
β-N-乙酰氨基葡萄糖苷酶活性和酶激活剂活性。在几个过程的上游或内部发挥作用,包括神经节苷脂分解过程;脂质储存;以及控制平衡的神经肌肉过程。位于线粒体中。在几个结构中表达,包括背部皮肤;中枢神经系统;生殖泌尿系统;血淋巴系统;和视网膜。用于研究GM2神经节苷脂病,AB变异型。此基因的人类同源物与GM2神经节苷脂病和GM2神经节苷脂病,AB变异型有关。与人类GM2A(GM2神经节苷脂激活剂)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:14667
ENSEMBL:ENSMUSG00000000594
UNIPROT:Q60648
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
14667
1
4
15045 bp
20.82
5
12
Gm2a 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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Cell-specific RNA expression
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Interactions
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Type
Name
MGI
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References Literature
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IF
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