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中文人类
PHOX2B - Paired Like Homeobox 2B
Alias:
CCHS
PMX2B
NBLST2
NBPhox
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这个基因编码的DNA结合蛋白是定位在细胞核的同源盒蛋白家族成员。该蛋白作为转录因子参与几个主要去甲肾上腺素能神经元群体的发展和神经递质表型的确定。基因产物与增强多巴胺β-羟化酶、c-fos启动子和几个增强子（包括环腺苷酸响应元素和血清响应元素）的第二信使介导的激活有关。该蛋白质中的20个氨基酸聚丙氨酸区段扩展5-13个氨基酸与先天性中枢低通气综合征有关。[由RefSeq，2016年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PHOX2B 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
