PAH (phenylalanine hydroxylase)

2014-11-01  

Identity

HGNC
PAH
LOCATION
12q23.2
LOCUSID
5053
ALIAS
PH,PKU,PKU1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5053
MIM: 612349
HGNC: 8582
Ensembl: ENSG00000171759

Variants:

dbSNP: 5053
ClinVar: 5053
TCGA: ENSG00000171759
COSMIC: PAH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171759ENST00000307000J3KND8
ENSG00000171759ENST00000546844F8W1D4
ENSG00000171759ENST00000550978A0A0U1RQI3
ENSG00000171759ENST00000551337F8W0A0
ENSG00000171759ENST00000553106P00439
ENSG00000171759ENST00000553106A0A024RBG4
ENSG00000171759ENST00000635477A0A0U1RQY4

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Phenylalanine metabolismKEGGko00360
Phenylalanine, tyrosine and tryptophan biosynthesisKEGGko00400
Phenylalanine metabolismKEGGhsa00360
Phenylalanine, tyrosine and tryptophan biosynthesisKEGGhsa00400
Metabolic pathwaysKEGGhsa01100
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Phenylalanine and tyrosine catabolismREACTOMER-HSA-71182
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166184060carbocisteineChemicalClinicalAnnotation, VariantAnnotationassociatedPK19036622
PA450931l-phenylalanineChemicalClinicalAnnotation, VariantAnnotationambiguousPK19036622

References

Pubmed IDYearTitleCitations
384363182024[In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase].0
384480142024[Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].0
387063002024Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.0
387318162024Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.0
384363182024[In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase].0
384480142024[Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene].0
387063002024Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Türkiye.0
387318162024Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.0
368490172023Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.0
370986072023The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.1
372373862023Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.0
372571782023Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.0
375533072023Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.1
368490172023Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia.0
370986072023The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.1

Citation

Dessen P

PAH (phenylalanine hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71633