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中文人类
PAH - Phenylalanine Hydroxylase
Alias:
PH
PKU
PKU1
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这个基因编码一个依赖生物素的芳香族氨基酸羟化酶蛋白家族的成员。编码的苯丙氨酸羟化酶酶将苯丙氨酸羟化为酪氨酸，是苯丙氨酸分解代谢中的限速步骤。这种酶活性缺乏导致常染色体隐性疾病苯丙酮尿症。[RefSeq，2017年8月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PAH 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
