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中文人类
NBEA - Neurobeachin
Alias:
BCL8B
LYST2
NEDEGE
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这个基因编码一个大型多样A-激酶锚定蛋白家族的成员，通过结合其II型调节亚基将蛋白激酶A的活性靶向到特定的亚细胞位点。在鼠脑中高度相似的蛋白质的特异性的表达和衣壳蛋白样膜招募表明，它涉及神经元高尔基体后膜的运输。这个基因的突变可能与一种自闭症相关。这个基因及其表达在多发性骨髓瘤患者中经常受到破坏。可变剪接产生多个转录变异体，编码不同的异构体。可能存在其他转录变异体，但其完整性质尚未确定。[RefSeq，2011年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NBEA 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
