(Q14851781)

English

PAH

protein-coding gene in the species Homo sapiens

PH
PKU
PKU1
phenylalanine hydroxylase

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000171759

Phenylalanine hydroxylase.jpg
678 × 713; 177 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

phenylalanine hydroxylase

1 reference

6 July 2017

UniProt protein ID

genetic association

phenylketonuria

3 references

14 December 2020

https://search.clinicalgenome.org/kb/gene-validity/5a617cb4-94ec-4f34-b97e-10d9808a1581--2020-04-24T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5a617cb4-94ec-4f34-b97e-10d9808a1581-2020-04-24T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000171759/MONDO_0009861

based on heuristic

inferred from an Open Targets association score over 0.7

maternal phenylketonuria

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000171759/Orphanet_2209

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 12

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

103230663

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

102836889

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

102958410

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

103352188

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

cytogenetic location

12q23.2

1 reference

15 May 2022

234

1 reference

15 May 2022

Gene Atlas image

PBB GE PAH 205719 s at fs.png
732 × 530; 11 KB

0 references

PBB GE PAH 217583 at fs.png
732 × 530; 12 KB

0 references

1 reference

HomoloGene build68

234

1 reference

HomoloGene build68

234

1 reference

HomoloGene build68

234

Caenorhabditis elegans

1 reference

HomoloGene build68

234

Drosophila melanogaster

1 reference

HomoloGene build68

234

right lobe of liver

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

metanephric glomerulus

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

body of pancreas

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

right adrenal gland

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000171759

http://identifiers.org/ncbigene/5053

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Encyclopædia Britannica Online ID

science/phenylalanine-hydroxylase

subject named as

phenylalanine hydroxylase

0 references

Ensembl gene ID

ENSG00000171759

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

Ensembl transcript ID

ENST00000548928

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000547319

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000550405

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000549111

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000553106

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000635500

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000546708

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000549247

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000551114

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000552251

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000551337

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000635477

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000635528

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000546844

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000548677

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000307000

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000550978

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

ENST00000551988

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000171759

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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