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中文人类
ANKRD11 - Ankyrin Repeat Domain Containing 11
Alias:
T13
LZ16
ANCO1
ANCO-1
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这个基因座编码一个含有ankryin重复结构的蛋白质。编码的蛋白质抑制配体依赖的转录激活。这个基因的突变与KBG综合症有关，其特征是大牙、独特的颅面特征、矮小身材、骨骼异常、全球发育延迟、癫痫和智力残疾。可变剪接转录本已经描述。相关的假基因存在于染色体2和X上。[由RefSeq提供，2012年1月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ANKRD11 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
