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
MAF - MAF BZIP Transcription Factor
Alias:
CCA4
AYGRP
c-MAF
CTRCT21
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
这个基因编码的蛋白质是一个结合DNA的、包含亮氨酸拉链的转录因子,它可以作为同源二聚体或异源二聚体发挥作用。根据结合位点和结合伙伴的不同,编码的蛋白质可以是转录激活子或抑制子。这个蛋白质在调节几个细胞过程中发挥重要作用,包括胚胎晶状体纤维细胞发育、T细胞对凋亡的敏感性增加和软骨细胞终末分化。这个基因的缺陷是导致青少年发作的颗粒性白内障以及先天性蓝绀性白内障4(CCA4)的原因。已经发现这个基因有两个转录变异体,编码不同的异构体。[由RefSeq,2010年1月提供]
Related ID:
NCBI:4094
ENSEMBL:ENSG00000178573
HGNC:6776
UNIPROT:O75444
OMIM:177075
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4094
6
2
398116 bp
38.49
329
10
13
20
MAF 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