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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
Spg11 - SPG11, spatacsin vesicle trafficking associated
Alias:
A330015I11
6030465E24Rik
C530005A01Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
轴突生成、胆固醇流出和运动神经元凋亡过程的上游或内部作用。位于几个细胞组件中,包括轴突、细胞质和树突。用于研究遗传性痉挛性截瘫11。该基因的人类同源物涉及查哈尔-马里-图疾病轴突型2X、肌萎缩侧索硬化症5型和遗传性痉挛性截瘫11。与人SPG11(SPG11囊泡转运相关,spatacsin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:214585
ENSEMBL:ENSMUSG00000033396
UNIPROT:Q3UHA3
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
214585
3
40
65915 bp
273.93
5
7
Spg11 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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