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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
小鼠
Cryab - crystallin, alpha B
Alias:
P23
Crya2
HspB5
Crya-2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一个小热休克蛋白(HSP20)家族的成员。编码的蛋白质是一种分子伴侣,可以保护蛋白质免受热变性和其他应力的影响。这种蛋白质是眼睛晶状体的成分,调节晶状体的分化,并作为晶状体的折射元件。这种蛋白质是炎症的负调控因子,具有抗凋亡特性,并参与肌肉组织的形成。缺乏这个基因的小鼠在实验性自身免疫性脑炎和中枢神经系统的炎症方面比野生型小鼠表现更差。在小鼠模型中,这个基因在减轻神经退行性疾病亚历山大病病理方面具有关键作用。人类基因中的突变与肌原纤维肌病2、婴儿期肌原纤维肌病导致的致命性高张力、多种类型的白内障和扩张性心肌病有关。可变剪接导致多个转录变异体。[由RefSeq,2014年1月提供]
Related ID:
NCBI:12955
ENSEMBL:ENSMUSG00000032060
UNIPROT:P23927
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12955
6
3
10686 bp
20.07
5
13
Cryab Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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