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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
Smpd1 - sphingomyelin phosphodiesterase 1, acid lysosomal
Alias:
ASM
aSMase
A-SMase
Zn-SMase
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活酸性鞘磷脂磷酸二酯酶活性和锌离子结合活性。参与神经酰胺生物合成过程;对凋亡过程的正向调节;以及对电离辐射的反应。在神经酰胺代谢过程、胆固醇代谢过程和鞘磷脂分解代谢过程的上游或内部发挥作用。位于细胞外空间。在包括消化系统、皮肤系统、神经系统、感觉器官和骨架在内的几个结构中表达。用于研究Niemann-Pick病。此基因的人类同源物与Niemann-Pick病、Niemann-Pick病A型和Niemann-Pick病B型有关。与人类SMPD1(鞘磷脂磷酸二酯酶1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20597
ENSEMBL:ENSMUSG00000037049
UNIPROT:Q04519
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
20597
1
6
4030 bp
69.93
6
9
Smpd1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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