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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
CRYBA2 - Crystallin Beta A2
Alias:
CTRCT42
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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。后者构成脊椎动物眼睛的主要蛋白质,用于维持晶状体的透明度和折射指数。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结晶蛋白也被定义为超家族。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-结晶蛋白最为多样,通过C-端延伸的存在(存在于碱性组中,但在酸性组中缺失)而有所不同。β-结晶蛋白形成不同大小的聚集体,并通过与其他β-结晶蛋白的自聚集或异二聚化形成同源二聚体。此基因是β酸性组成员。已报道的三个可变剪接转录变异体编码相同的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1412
ENSEMBL:ENSG00000163499
HGNC:2395
UNIPROT:P53672
OMIM:600836
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
1412
2
4
3233 bp
22.10
12
3
4
5
CRYBA2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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