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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
Flna - filamin, alpha
Alias:
Fln1
Dilp2
ABP-280
GENA 379
filamin-1
F730004A14Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活钾通道调节剂活性和蛋白激酶C结合活性。参与几个过程,包括循环系统发育;离子跨膜运输调节;和神经元突起发育调节。在肌动蛋白细胞骨架组织;早期内质网到晚期内质网运输;和上皮到间质转化中起上游或内部作用。位于几个细胞组件中,包括Z带;轴突生长锥;和高尔基体网络。在几个结构中表达,包括骨;脑;心脏的大血管;肠道;和心脏。用于研究周围室结节异位。这个基因的人类同源物涉及X连锁隐性疾病(多种);骨发育疾病(多种);心脏瓣膜疾病(多种);周围室结节异位;和终末骨发育不良。与人类FLNA(肌动蛋白A)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:192176
ENSEMBL:ENSMUSG00000031328
UNIPROT:Q8BTM8
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
192176
6
48
26721 bp
Unknown
6
6
Flna Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
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Name
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