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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
Fig4 - FIG4 phosphoinositide 5-phosphatase
Alias:
Sac3
A530089I17Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够激活磷酸肌醇二磷酸磷酸酶活性;磷酸肌醇-3-磷酸磷酸酶活性和磷酸肌醇-4-磷酸磷酸酶活性。在几个过程的上游或内部发挥作用,包括髓鞘化的负调控;神经系统发育;和磷酸肌醇代谢过程。预测位于内质网膜和脂滴中。预测与高尔基体;内质网;和回收内质网共定位。在大脑皮质;神经节;神经乳头核;胸腺原基;和刚毛表达。用于研究Charcot-Marie-Tooth病4J型和Yunis-Varon综合征。这个基因的人类同源物与Charcot-Marie-Tooth病4J型;Yunis-Varon综合征;肌萎缩侧索硬化11型;和双侧矢状顶枕叶多微脑回畸形有关。与人类FIG4(FIG4磷酸肌醇5-磷酸酶)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:103199
ENSEMBL:ENSMUSG00000038417
UNIPROT:Q91WF7
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
103199
1
23
115070 bp
103.45
5
5
Fig4 Genetics information (-)
GRCm39
Sequence Homology
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#
Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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