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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
CRYM - Crystallin Mu
Alias:
THBP
DFNA40
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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:特有种和普遍存在。前者也被称为系统发育限制的结晶蛋白。后者构成了脊椎动物晶状体的主要蛋白质,并保持晶状体的透明度和折射指数。这个基因编码一个特有种结晶蛋白,结合NADPH,并与细菌鸟氨酸环化脱氨酶具有序列相似性。编码的蛋白不在晶状体组织中执行结构功能,而是结合甲状腺激素,以进行可能的调节或发育功能。这个基因的突变与常染色体显性非综合征性耳聋有关。[由RefSeq,2014年9月提供]
Related ID:
NCBI:1428
ENSEMBL:ENSG00000103316
HGNC:2418
UNIPROT:Q14894
OMIM:123740
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1428
2
8
44542 bp
33.78
87
2
6
12
CRYM 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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