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中文人类
ASXL1 - ASXL Transcriptional Regulator 1
Alias:
MDS
BOPS
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这个基因与果蝇的附加性生殖梳基因相似，后者编码一个在发育中的胚胎中正常确定节段特征所需的可染色质结合蛋白。该蛋白是Polycomb蛋白家族的成员，对于维持homeotic和其他位点的稳定抑制是必需的。该蛋白被认为在局部区域破坏染色质，增强某些基因的转录，同时抑制其他基因的转录。这个基因编码的蛋白作为视黄酸受体的配体依赖性协同激活子与核受体协同激活子1合作发挥作用。这个基因的突变与骨髓增生异常综合症和慢性髓系白血病有关。可变剪接导致多个转录变异体。[RefSeq, 2009年9月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ASXL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
