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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
CRYBA4 - Crystallin Beta A4
Alias:
CYRBA4
CTRCT23
MCOPCT4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
结晶蛋白分为两类:特有种或酶类,以及普遍存在类。后者是脊椎动物眼睛晶状体的主要蛋白质,维持晶状体的透明度和折射率。由于晶状体中央纤维细胞在发育过程中失去核,这些结晶蛋白在一生中不断合成并保留,使它们成为极其稳定的蛋白质。哺乳动物晶状体结晶蛋白分为α、β和γ家族;β和γ结晶蛋白也被认为是一个超家族。α和β家族进一步分为酸性组和碱性组。结晶蛋白中存在七个蛋白质区域:四个同源基序、一个连接肽以及N-和C-端延伸。β-结晶蛋白最多样化,通过C-端延伸的存在而不同(存在于碱性组中,不在酸性组中)。β-结晶蛋白形成不同大小的聚集体,并能自我聚集形成二聚体或与其他β-结晶蛋白形成异二聚体。这个基因是β酸性组成员,是β-B1、β-B2和β-B3基因簇的一部分。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1413
ENSEMBL:ENSG00000196431
HGNC:2396
UNIPROT:P53673
OMIM:123631
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1413
2
6
40450 bp
22.37
150
5
3
8
CRYBA4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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