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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
Sgms1 - sphingomyelin synthase 1
Alias:
Mob
Sms1
Sor1
Tmem23
9530058O11Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活神经酰胺磷酸乙醇胺合成酶活性和鞘磷脂合成酶活性。参与鞘糖脂生物合成过程。在神经酰胺生物合成过程的上游或内部发挥作用,并对外在凋亡信号通路进行负调控。预测位于高尔基体的顺面囊泡中。预测是高尔基膜、内质网膜和质膜的整合成分。在包括消化系统、中枢神经系统、耳朵、四肢和呼吸系统在内的几个结构中表达。与人类的SGMS1(鞘磷脂合成酶1)正同源。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:208449
ENSEMBL:ENSMUSG00000040451
UNIPROT:Q8VCQ6
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
208449
17
10
267159 bp
49.32
8
8
Sgms1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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