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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
PDCD10 - Programmed Cell Death 10
Alias:
CCM3
TFAR15
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与细胞凋亡相关的保守蛋白。该蛋白与丝氨酸/苏氨酸蛋白激酶MST4相互作用,以调节细胞外信号调节激酶(ERK)途径。它还可以与丝氨酸/苏氨酸激酶25相互作用并被其磷酸化,被认为在血管发育的基本信号传导途径中发挥作用。这个基因的突变是导致脑毛细血管畸形的一个原因,这是一种导致癫痫和脑出血的血管畸形。已经识别出多种可变剪接的变异体,它们编码相同的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:11235
ENSEMBL:ENSG00000114209
HGNC:8761
UNIPROT:Q9BUL8
OMIM:609118
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11235
12
9
51595 bp
24.70
145
3
7
13
PDCD10 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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CAS Number
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References Literature
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