PAH |
- 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:
- phenylketonuria Monarch
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)