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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
人类
CCDC88A - Coiled-coil Domain Containing 88A
Alias:
APE
GIV
GRDN
PEHO
HkRP1
PEHOL
GIRDIN
KIAA1212
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个Girdin家族成员,该家族包含螺旋-螺旋结构域的富含蛋白质。编码的蛋白质是一种被丝氨酸/苏氨酸激酶Akt激活的肌动蛋白结合蛋白,并在细胞骨架重塑和细胞迁移中发挥作用。该蛋白质还通过调节磷酯酰肌醇3-激酶(PI3K)依赖的生长因子受体酪氨酸激酶和G蛋白偶联受体激活Akt,从而增强Akt信号传导。这个基因的表达增加和编码蛋白质的磷酸化可能在癌症转移中发挥作用。已经观察到这个基因的替代剪接转录变体,编码多种异构体。[RefSeq,2011年12月提供]
Related ID:
NCBI:55704
ENSEMBL:ENSG00000115355
HGNC:25523
UNIPROT:Q3V6T2
OMIM:609736
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55704
4
33
132015 bp
216.04
811
1
5
26
CCDC88A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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