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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
PI4KA - Phosphatidylinositol 4-kinase Alpha
Alias:
SPG84
GIDID2
PIK4CA
PMGYCHA
pi4K230
PI4K-ALPHA
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个磷脂酰肌醇(PI) 4-激酶,它催化磷脂酰肌醇4,5-二磷酸生物合成的第一个定向步骤。哺乳动物的PI 4-激酶已被分为两种类型,II型和III型,基于它们的分子质量,以及被去污剂和腺苷调节的情况。这个基因编码的蛋白质是一种III型酶,不受腺苷抑制。可变剪接导致多个转录变异体,它们编码不同的异构体。[由RefSeq,2018年4月提供]
Related ID:
NCBI:5297
ENSEMBL:ENSG00000241973
HGNC:8983
UNIPROT:P42356
OMIM:600286
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5297
9
55
151121 bp
236.83
293
6
14
19
PI4KA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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