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PAH Gene

protein-coding GIFtS: 68

GC12M101737

phenylalanine hydroxylase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
EC 1.14.16.1 ^³
PH ^¹, ²
PKU ^²
PKU1 ^², ⁵
Phe-4-monooxygenase ^³

Descriptions
phenylalanine hydroxylase ^²

External Ids
HGNC: 8582¹
Entrez Gene: 5053²
UniProtKB: P00439³
Ensembl: ENSG00000171759⁷

Search outside databases for aliases for PAH gene

Previous GC identifers: GC12M102330 GC12M103190 GC12M101735 GC12M101736

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for PAH:

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]

Gene Wiki entry for PAH (Phenylalanine_hydroxylase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the PAH gene

Entrez Gene cytogenetic band: 12q22-q24.2 Ensembl cytogenetic band: 12q23.2 HGNC cytogenetic band: 12q22-q24.2

PAH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M101737: (about GC identifiers)

Start:	101,756,234 bp from pter
End:	101,835,511 bp from pter
Size:	79,278 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000012.10 NT_019546.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439 (See protein sequence)

Recommended Name: Phenylalanine-4-hydroxylase

Size: 452 amino acids; 51862 Da

Cofactor: Fe(2+) ion

Subunit: Homodimer

PDB structures from and Proteopedia :

1DMW (3D)

1J8T (3D)

1J8U (3D)

1KW0 (3D)

1LRM (3D)

1MMK (3D)

1MMT (3D)

1PAH (3D)

1TDW (3D)

1TG2 (3D)

2PAH (3D)

3PAH (3D)

4PAH (3D)

5PAH (3D)

6PAH (3D)

Secondary accessions: Q16717 Q8TC14

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000268.1

ENSEMBL proteins:

ENSP00000303500

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (TYR + TRP + PHE Hydroxylase)
	Human Recombinant Proteins from Abnova (PAH)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for PAH:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PAH
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (TYR + TRP + PHE Hydroxylase), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (PAH)
	Novus Biologicals Antibody for PAH

Assays for PAH:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P00439

ProtoNet protein and cluster: P00439

2 Blocks protein families:

IPB001273 Aromatic amino acid hydroxylase

IPB002912 Amino acid-binding ACT

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Similarity: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family

Similarity: Contains 1 ACT domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PAH)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PAH)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000277

Applied Biosystems Silencer® siRNAs for PAH

Sigma-Aldrich siRNA and siRNA Panels for PAH

Sigma-Aldrich shRNA for PAH

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for PAH
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000277
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000277
untagged cDNA clone in CMV expression vector: NM_000277

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000277

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Catalytic activity: L-phenylalanine + tetrahydrobiopterin + O(2) = L-tyrosine +

4a-hydroxytetrahydrobiopterin

Enzyme regulation: N-terminal region of PAH is thought to contain allosteric binding sites for

phenylalanine and to constitute an "inhibitory" domain that regulates the activity of a catalytic

domain in the C-terminal portion of the molecule

Enzyme Number (IUBMB): EC 1.14.16.1

Genatlas biochemistry entry for PAH:

phenylalanine hydroxylase,iron containing enzyme

7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Pah):

behavior/neurological	craniofacial	growth/size	homeostasis/metabolism	pigmentation
renal/urinary system	reproductive system

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IEA	--
GO:0004505	phenylalanine 4-monooxygenase activity	TAS	3856322
GO:0005506	iron ion binding	IEA	--
GO:0016597	amino acid binding	IEA	--
GO:0042803	protein homodimerization activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for PAH (Your Favorite Gene powered by Ingenuity)

Phenylalanine, Tyrosine and Tryptophan Biosynthesis

GeneDecks PAH for the pathways selected above

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UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetic acid and fumarate from

L-phenylalanine: step 1/6

Gene Network Central^TM Interacting Genes and Proteins Network for PAH

5/28 Interacting proteins for PAH (ENSP00000303500³) via UniProtKB, MINT, and/or STRING (see all 28 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PCBD1	ENSP00000299299³	STRING (score=.999)
QDPR	ENSP00000281243³	STRING (score=.998)
TAT	ENSP00000348234³	STRING (score=.97)
TYR	ENSP00000263321³	STRING (score=.93)
FARS2	ENSP00000316335³	STRING (score=.899)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006559	L-phenylalanine catabolic process	IEA	--
GO:0006571	tyrosine biosynthetic process	IEA	--
GO:0008652	amino acid biosynthetic process	TAS	3856322
GO:0009072	aromatic amino acid family metabolic process	IEA	--
GO:0018126	protein amino acid hydroxylation	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PAH
10/45 Novoseek chemical compound relationships for PAH gene (see all 45 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
phenylalanine	97.27	1608	8573072 (8), 10964764 (6), 2302187 (6), 17884650 (5) (see all 99)
hpah	94.60	17	10767175 (2), 12554741 (1), 8570624 (1), 11444803 (1) (see all 16)
4a-hydroxytetrahydrobiopterin	92.71	2	8352282 (1), 1988938 (1)
dihydropteridine	88.05	7	2069475 (1), 1793349 (1), 8352282 (1), 12956422 (1) (see all 7)
pterin	86.63	16	12459906 (2), 12603331 (2), 12696880 (2), 1359535 (1) (see all 11)
7-biopterin	85.42	2	1988938 (2)
tetrahydropterin	83.06	2	1944771 (1), 14999516 (1)
dmph4	81.76	1	2062852 (1)
6-methyltetrahydropterin	81.31	4	1944771 (2), 15493924 (1)
6-biopterin	79.99	1	9204951 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PAH)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PAH)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000277

Sigma-Aldrich siRNA and siRNA Panels for PAH

Sigma-Aldrich shRNA for PAH

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000277

REFSEQ mRNAs for PAH gene:

NM_000277.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000277

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000277
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000277
                                 untagged cDNA clone in CMV expression vector: NM_000277

Additional cDNA sequence:

AK298419.1 AK313383.1 BC026251.1 CR599463.1 L47726.1 U49897.1

23 DOTS entries:

DT.95349721 DT.416554 DT.95096800 DT.92456360 DT.100649727 DT.416557 DT.92456345 DT.92456368

DT.121179686 DT.416555 DT.450436 DT.91694235 DT.92040134 DT.95096812 DT.100792283 DT.121179705

DT.92456351 DT.121179746 DT.91993836 DT.92456354 DT.95091252 DT.91953679 DT.95223236

24/167 AceView cDNA sequences (see all 167 ):

AI076719 AA334497 CB157159 AA344539 CR599463 BE326688 AI474885 BG563015

BG617627 AV681930 BX496128 CB163800 CB164338 BG618056 AA344407 AL531676

BG567604 AV660089 BG618318 AI457856 BG401651 U49897 AI651059 AI474769

highest scoring ESTs for PAH:

U49897 AA344407 AA344539 AV647584 AV647660 AV647682 AV647728 AV653234 AV654560 AV655816

Unigene Cluster for PAH:

Phenylalanine hydroxylase

Hs.643451 [show with all ESTs]

Unigene Representative Sequence: NM_000277

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000307000

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PAH expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for PAH

¹ / ² / ³

3 probe-sets matching PAH gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
33701_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	U49897	1.00	1.00	1.00	1
205719_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000277	0.60	1.00	0.82	1
205719_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks PAH for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: GACAGAATGT

SOURCE GeneReport for Unigene cluster: Hs.643451
Expression variation in blood from EXPOLDB for PAH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PAH gene from 5/12 species (see all 12 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PAH¹	--	phenylalanine hydroxylase	90.74(n) 94.99(a)	475446 XM_532671.2 XP_532671.2
chimpanzee (Pan troglodytes)	PAH¹	--	phenylalanine hydroxylase	99.71(n) 99.78(a)	741097 XM_001156860.1 XP_001156860.1
cow (Bos taurus)	PAH¹	--	phenylalanine hydroxylase	89.5(n) 92.68(a)	510583 NM_001046058.1 NP_001039523.1
rat (Rattus norvegicus)	Pah¹	--	phenylalanine hydroxylase	87.54(n) 92.26(a)	24616 NM_012619.1 NP_036751.1
mouse (Mus musculus)	Pah^{1, 5}	10 (47.00 cM)⁵	phenylalanine hydroxylase^{1, 5}	86.87(n)¹ 92.04(a)¹	18478¹ NM_008777.2¹ NP_032803.1¹ AA968324⁵ AK145839⁵ (see all 12)

About this table Species with no ortholog for PAH

ENSEMBL Gene Tree for PAH

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PAH gene

TPH1² TPH2² TH²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Polymorphism: The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The

enzyme activity of the variant protein is indistinguishable from that of the wild-type form

10/920 NCBI SNPs in PAH are shown (see all 920 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 188)

AB	SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs7485331^1,2	A,C,F,H	101836749(+)	`TTTTTC/AAGTGT`	1	--	ng3¹		9		NA EU EA WA	712
	rs1801153^1,2	A,C,F,H	101756896(-)	`CTCAAG/AAGCAT`	1	--	ut3¹ ese³		10		EU EA WA NA	1008
--	rs1498691^1,2	A,C,F	101836850(-)	`TGGAGT/CTGTCA`	1	--	ng3¹		3		NA	142
	rs1522299^1,2	C,F	101836238(+)	`CCTTGA/GGTGCC`	1	--	ng3¹		4		NA EA	362
--	rs2280615^1,2	C,F	101835109(+)	`GCACGT/GGGGGC`	1	--	ut5¹ ese³		4		EA NA	1624
--	rs5030849^1,2	C,H	101770783(-)	`CTTCCG/AAGTCT`	1	Q/R	mis¹ ese³		4		EU EA WA	418
	rs17546516^1,2	C,F	101836114(+)	`ACCACA/GCTTTT`	1	--	ng3¹		9		NA EA EU WA	742
--	rs1802905^1,2	C	101764812(-)	`GAAAAG/TCTCGC`	1	K/N	mis¹		0	--	--	--	--
--	rs1522297^1,2	F	101835959(+)	`CCAGYC/TATGCT`	1	--	ng3¹		4		EA NA	148
--	rs17041406^1,2	F	101835821(-)	`ACTGAG/-TGTTT`	1	--	ng3¹		2		MN EA	356

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HapMap Linkage Disequilibrium images for PAH (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 612349 disorders: 261600 261600

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Defects in PAH are the cause of phenylketonuria (PKU) [MIM:261600]. PKU is an autosomal

recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase

deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200

mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low

phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes

similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy'

odor

Defects in PAH are the cause of non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA)

[MIM:261600]. Non-PKU HPA is a mild form of phenylalanine hydroxylase deficiency characterized by

phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral

development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild

hyperphenylalaninemia mutation and a severe one

Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:261600]. HPA is the

mildest form of phenylalanine hydroxylase deficiency

10/19 Novoseek disease relationships for PAH gene (see all 19 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
phenylketonurias	98.27	415	18773304 (3), 11139255 (2), 1679030 (2), 8827369 (2) (see all 99)
hyperphenylalaninemia	98.05	199	14601136 (3), 9380432 (2), 17517248 (2), 16527067 (2) (see all 99)
phenylketonuria classical	94.24	38	9427141 (2), 2063869 (1), 7844888 (1), 7584088 (1) (see all 22)
phenylketonuria maternal	77.87	5	10429004 (3), 14654659 (1)
metabolic disorder	63.71	32	1968617 (1), 19172175 (1), 12777691 (1), 18985011 (1) (see all 20)
severe mental retardation	59.55	5	7584088 (1), 10444341 (1), 8384712 (1), 16319947 (1)
mental retardation	58.33	6	7628072 (1), 9950308 (1), 10924272 (1), 17637719 (1)
tyrosinemias	46.00	1	11701644 (1)
vitiligo	35.25	6	16935936 (3), 8204666 (1), 16143555 (1), 8128228 (1)
genetic disorder	34.13	12	17221866 (1), 8100164 (1), 17968763 (1), 2309142 (1) (see all 6)

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Genatlas disease: PAH

phenylketonuria,hyperphenylalaninemia

GeneTests: PAH

Phenylalanine Hydroxylase Deficiency

Human Gene Mutation Database: PAH
Genetic Association Database: PAH
Human Genome Epidemiology Navigator: PAH (433 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

New Pulmonary Hypertension Guideline Challenges Use of Calcium Channel Blockers

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/525 PubMed articles for PAH gene (see all 525 ):

Molecular analysis of phenylketonuria (PKU) in newborns from Texas. (PubMed id 11385716)^{1, 3, 4, 6} Yang Y.... Garcia-Heras J. (2001)
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. (PubMed id 11326337)^{1, 3, 4} Gjetting T.... Guettler F. (2001)
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency. (PubMed id 12200907)^{1, 3, 6} Verduci E....Giovannini M. (2002)
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene. (PubMed id 9792411)^{1, 3, 4} Waters P.J.... Scriver C.R. (1998)
[Six novel mutations in PAH gene detected by sequencing] (PubMed id 15300621)^{1, 3, 6} Zhang Z....Xu J. (2004)
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. (PubMed id 12640344)^{1, 3, 6} Kasnauskiene J....Kucinskas V. (2003)
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. (PubMed id 11461196)^{1, 3, 4} Gjetting T.... Guettler F. (2001)
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria. (PubMed id 11180595)^{1, 3, 4} Acosta A.X.... Zago M.A. (2001)
[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria] (PubMed id 15730960)^{1, 3, 6} Song F....Zhang T. (2005)
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. (PubMed id 14654659)^{1, 3, 6} Guttler F....Koch R. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 5053	HGNC: 8582	AceView: PAH	Ensembl:ENSG00000171759	euGenes: HUgn5053
ECgene: PAH	H-InvDB: PAH

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PAHdb	http://www.pahdb.mcgill.ca/
GeneReviews	http://www.genetests.org/query?gene=PAH
Wikipedia	http://en.wikipedia.org/wiki/Phenylalanine_hydroxylase

Licensable Technologies for PAH
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for PAH:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for PAH-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for PAH		Antibodies for PAH
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for PAH		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (PAH)
	Antibodies (PAH)
	Chimera RNAi (PAH)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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	Recombinant Proteins (TYR + TRP + PHE Hydroxylase)
	Antibodies (TYR + TRP + PHE Hydroxylase)

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Antibodies for PAH

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
PAH Gene at Home site.
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PAH Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for PAH

Summaries
for PAH

Genomic Location
for PAH

Proteins
for PAH

Protein Domains/
Families
for PAH

Gene Function
for PAH

Pathways & Interactions
for PAH

Drugs & Compounds
for PAH

Transcripts
for PAH

Expression
for PAH

Orthologs
for PAH

Paralogs
for PAH

SNPs/Variants
for PAH

Disorders & Mutations
for PAH

Medical News
for PAH

Publications
for PAH

Search for PAH

Genome Databases showing PAH

Other Databases showing PAH

Specialized Databases showing PAH

Licensable Technologies
for PAH

Services
for PAH

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PAH Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor PAH

Summariesfor PAH

Genomic Locationfor PAH

Proteinsfor PAH

Protein Domains/Familiesfor PAH

Gene Functionfor PAH

Pathways & Interactionsfor PAH

Drugs & Compoundsfor PAH

Transcriptsfor PAH

Expression for PAH

Orthologsfor PAH

Paralogsfor PAH

SNPs/Variantsfor PAH

Disorders & Mutationsfor PAH

Medical Newsfor PAH

Publicationsfor PAH

Search for PAH

Genome Databases showing PAH

Other Databases showing PAH

Specialized Databases showing PAH

Licensable Technologiesfor PAH

Servicesfor PAH

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for PAH

Summaries
for PAH

Genomic Location
for PAH

Proteins
for PAH

Protein Domains/
Families
for PAH

Gene Function
for PAH

Pathways & Interactions
for PAH

Drugs & Compounds
for PAH

Transcripts
for PAH

Expression
for PAH

Orthologs
for PAH

Paralogs
for PAH

SNPs/Variants
for PAH

Disorders & Mutations
for PAH

Medical News
for PAH

Publications
for PAH

Licensable Technologies
for PAH

Services
for PAH