View gene PAH

General information
Gene symbol PAH
Gene name phenylalanine hydroxylase
Chromosome 12
Chromosomal band q22-q24.2
Gene Alias
Imprinted Unknown
Genomic reference NG_008690.1
Transcript reference NM_000277.1
Study Type Expression
Expression Status[Source: Literature] Associated with DOWNREGULATION in Vitiligo Reimann et al.(2012)
Expression Summary[Source: Literature] Sample : "SKIN, BLOOD" || Population : CAUCASIAN/EUROPEAN || Gene name used in study : PAH
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Curators (1) IGIB
Date created September 03, 2015
Date last updated September 03, 2015
Version PAH:150903

Links to other resources
Gene Expression Meta-Analysis
HGNC 8582
Entrez Gene 5053
PubMed articles PAH
OMIM - Gene 612349

Active transcripts




NCBI ID     

NCBI Protein ID     

00382 12 phenylalanine hydroxylase NM_000277.1 NP_000268.1 0