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中文人类
PHOX2A - Paired Like Homeobox 2A
Alias:
ARIX
FEOM2
NCAM2
PMX2A
CFEOM2
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这个基因编码的蛋白质包含一个与果蝇贵族基因产物最相似的对称式同源域。该编码蛋白质在自主神经系统发育中扮演重要角色。它调节酪氨酸羟化酶和多巴胺β-羟化酶的表达，这两种儿茶酚胺生物合成酶对于去甲肾上腺素神经递质表型的分化和维护至关重要。该编码蛋白质还被证明能调节α3烟碱乙酰胆碱受体基因的转录。这个基因的突变与常染色体隐性遗传性眼外肌先天性纤维症有关。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PHOX2A 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
