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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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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
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这个基因编码过氧化氢酶,这是一种在机体对抗氧化应激中的关键抗氧化酶。过氧化氢酶是一种存在于几乎所有需氧细胞的过氧化物体内的一种血红素酶。过氧化氢酶将活性氧物种过氧化氢转化为水和氧气,从而减轻过氧化氢的毒性作用。氧化应激被假设在许多慢性或晚发疾病如糖尿病、哮喘、阿尔茨海默病、系统性红斑狼疮、类风湿关节炎和癌症的发展中起作用。这个基因中的多态性与过氧化氢酶活性下降相关,但迄今为止,只有acatalasemia被证实是由这个基因引起的疾病。[由RefSeq,2009年10月提供]
Related ID:
NCBI:847
ENSEMBL:ENSG00000121691
HGNC:1516
UNIPROT:P04040
OMIM:115500
Basic Information
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847
1
13
33127 bp
59.76
40
1
9
22
CAT Genetics information (+)
GRCh38
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* This data comes from NCBI.
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