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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
PIK3CD - Phosphatidylinositol-4,5-bisphosphate 3-kinase Catalytic Subunit Delta
Alias:
APDS
PI3K
IMD14
p110D
IMD14A
IMD14B
ROCHIS
P110DELTA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
磷脂酰肌醇3激酶(PI3Ks)磷酸化肌醇脂质,参与免疫反应。该基因编码的蛋白质是一种主要在白细胞中发现的类I PI3K。与其他类I PI3K(p110-alpha、p110-beta和p110-gamma)一样,编码的蛋白质结合p85适配蛋白和GTP结合RAS。然而,与其它类I PI3K不同,这种蛋白质磷酸化自身,而不是p85蛋白。[由RefSeq提供,2010年7月]
Related ID:
NCBI:5293
ENSEMBL:ENSG00000171608
HGNC:8977
UNIPROT:O00329
OMIM:602839
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5293
38
24
101857 bp
119.48
669
4
14
16
PIK3CD Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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