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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
MLXIPL - MLX Interacting Protein Like
Alias:
MIO
MLX
CHREBP
MONDOB
WBSCR14
WS-bHLH
bHLHd14
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个基本的helix-loop-helix亮氨酸拉链转录因子,属于Myc/Max/Mad超家族。这个蛋白质形成一个异源二聚体复合物,并结合激活甘油三酯合成基因启动子中的碳水化合物响应元件(ChoRE)基序,这是依赖于葡萄糖的。这个基因在威廉斯-贝伦综合征中缺失,这是一种由染色体7q11.23上相邻基因缺失引起的多系统发育紊乱。可变剪接导致多个转录变异体。[RefSeq,2015年12月提供]
Related ID:
NCBI:51085
ENSEMBL:ENSG00000009950
HGNC:12744
UNIPROT:Q9NP71
OMIM:605678
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51085
14
17
54706 bp
93.07
83
1
10
7
MLXIPL 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!
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