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Gene Information
Gene ID:5053
Symbol:PAH
Full Name:phenylalanine hydroxylase
Alias:PH|PKU|PKU1
Organism:Homo sapiens (Human)
Chromosome:12
Genetic Location:12q22-q24.2
Physical Location:101756233-101835510 on NC_000012.10, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:PAH
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Linkage Dataset
MarkerLODP valueLocation (bp)
D12S346  98052454
Region:98052454-102788867
Phenotype:Alcoholism phenotype along with age, gender, and P300 or constraint
Name:15211641
Method:Linkage
Publication:Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed
Summary:A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000277.1NP_000268.1NC_000012.10 range: 101756233..101835510, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0004497monooxygenase activityMolecular FunctionIEA
GO:0004505phenylalanine 4-monooxygenase activityMolecular FunctionTAS (3856322)
GO:0005506iron ion bindingMolecular FunctionIEA
GO:0016597amino acid bindingMolecular FunctionIEA
GO:0046872metal ion bindingMolecular FunctionIEA
GO:0006559L-phenylalanine catabolic processBiological ProcessIEA
GO:0008152metabolic processBiological ProcessIEA
GO:0008652amino acid biosynthetic processBiological ProcessTAS (3856322)
GO:0009072aromatic amino acid family metabolic processBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:5053
HGNC:8582
Ensembl:ENSG00000171759
MIM:261600
HPRD:08943
HuGE Navigator:5053
dbSNP:PAH
GeneCard:PAH
AceView:PAH