Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
人类
CRYGS - Crystallin Gamma S
Alias:
CRYG8
CTRCT20
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
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。γ-结晶蛋白是一个高度对称、单体蛋白质的同质组,通常缺乏连接肽和末端延伸。它们在早期发育后受到差异调节。这个基因编码一个最初被认为是β-结晶蛋白的蛋白质,但编码的蛋白质是单体的,与其他γ-结晶蛋白的序列相似性更高。这个基因编码成年眼晶状体组织中最重要的γ-结晶蛋白。无论是因为衰老还是特定基因的突变,γ-结晶蛋白都与白内障的形成有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:1427
ENSEMBL:ENSG00000213139
HGNC:2417
UNIPROT:P22914
OMIM:123730
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1427
1
3
5938 bp
21.01
40
5
7
11
CRYGS Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top