ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

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

Marker

LOD

P value

Location (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

mRNA	Protein	Reference assembly Genomic
NM_000277.1	NP_000268.1	NC_000012.10 range: 101756233..101835510, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0004497	monooxygenase activity	Molecular Function	IEA
GO:0004505	phenylalanine 4-monooxygenase activity	Molecular Function	TAS (3856322)
GO:0005506	iron ion binding	Molecular Function	IEA
GO:0016597	amino acid binding	Molecular Function	IEA
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0006559	L-phenylalanine catabolic process	Biological Process	IEA
GO:0008152	metabolic process	Biological Process	IEA
GO:0008652	amino acid biosynthetic process	Biological Process	TAS (3856322)
GO:0009072	aromatic amino acid family metabolic process	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000171759

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: