• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PAH (HGNC:8582) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
phenylalanine hydroxylase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PH
%HI
20.97(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.5(Read more about gnomAD LOEUF score)
Cytoband
12q23.2
Genomic Coordinates
GRCh37/hg19: chr12:103230667-103352219 NCBI Ensembl UCSC
GRCh38/hg38: chr12:102836889-102958441 NCBI Ensembl UCSC
MANE Select Transcript
NM_000277.3 ENST00000553106.6 (Read more about MANE Select)
Function
Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. {ECO:0000269|PubMed:18460651, ECO:0000269|PubMed:18835579}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9235
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/28/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Homozygous loss of function mutations in PAH cause phenylketonuria (PKU) and non-PKU hyperphenylalaninemia (non-PKU HPA). Both of these are autosomal recessive conditions.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)