PAH

GENE INFORMATION

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Gene name

PAH (HGNC Symbol)

Synonyms

PH

Description

Phenylalanine hydroxylase (HGNC Symbol)

Entrez gene summary

PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]

Chromosome

12

Cytoband

q23.2

Chromosome location (bp)

102836885 - 102958410

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171759 (version 78.38)

Entrez gene

5053

UniProt

P00439 (UniProt - Evidence at protein level)

neXtProt

NX_P00439

Antibodypedia

PAH antibodies
 

PROTEIN VIEW

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PAH-001
 
PAH-002
 
PAH-005
 
PAH-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PAH-001 ENSP00000448059
ENST00000553106
P00439
Show all »
Show » Show » 452 51.9 No 0
PAH-002 ENSP00000303500
ENST00000307000
J3KND8
Show all »
Show » Show » 447 51.4 No 0
PAH-005 ENSP00000447620
ENST00000551337
F8W0A0
Show all »
Show » Show » 136 15.6 No 0
PAH-009 ENSP00000446658
ENST00000546844
F8W1D4
Show all »
Show » Show » 117 13.3 No 0