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Gene: PAH (phenylalanine hydroxylase) Homo sapiens
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Symbol: PAH
Name: phenylalanine hydroxylase
Description: Exhibits phenylalanine 4-monooxygenase activity. Predicted to be involved in tyrosine biosynthetic process. Predicted to localize to the cytosol. Implicated in intellectual disability and phenylketonuria.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PH; phe-4-monooxygenase; phenylalanine 4-monooxygenase; phenylalanine-4-hydroxylase; PKU; PKU1
Orthologs:
Mus musculus (house mouse) : Pah (phenylalanine hydroxylase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pah (phenylalanine hydroxylase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pah (phenylalanine hydroxylase)
Pan paniscus (bonobo/pygmy chimpanzee) : PAH (phenylalanine hydroxylase)
Canis lupus familiaris (dog) : PAH (phenylalanine hydroxylase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pah (phenylalanine hydroxylase)
Sus scrofa (pig) : PAH (phenylalanine hydroxylase)
more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   UAE2_H   BW37_H   MULTSCL22_H   SPSL2_H   BW195_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812102,836,889 - 102,958,441 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712103,232,104 - 103,311,381 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3612101,756,234 - 101,835,511 (-)NCBINCBI36hg18NCBI36
Build 3412101,734,570 - 101,813,848NCBI
Celera12102,896,051 - 102,975,653 (-)NCBI
Cytogenetic Map12q23.2NCBI
HuRef12100,291,597 - 100,370,682 (-)NCBIHuRef
CHM1_112103,199,004 - 103,278,175 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PAH
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735410
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.