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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALAD Gene

protein-coding GIFtS: 64
GCID: GC09M116148

aminolevulinate dehydratase

(Previous names: aminolevulinate, delta-, dehydratase )

Explore 41 diseases affiliated with
ALAD via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aminolevulinate Dehydratase¹ ²		Porphobilinogen Synthase² ³
ALADH¹ ² ³ ⁵		EC 4.2.1.24³ ⁸
PBGS¹ ² ⁵		Delta-Aminolevulinic Acid Dehydratase²
Aminolevulinate, Delta-, Dehydratase¹ ²

External Ids:	HGNC: 395¹	Entrez Gene: 210²	Ensembl: ENSG00000148218⁷	OMIM: 125270⁵	UniProtKB: P13716³

Export aliases for ALAD gene to outside databases

Previous GC identifers: GC09M106947 GC09M107880 GC09M109602 GC09M111524 GC09M113228 GC09M115188 GC09M085755

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALAD:

The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of

delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD

catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity.

ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity

to lead poisoning and acute hepatic porphyria. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716

Function: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per

subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen

Gene Wiki entry for ALAD

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ALAD gene promoter:
GR Tal-1beta IRF-2 HFH-1 deltaCREB HOXA5 GR-alpha ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALAD promoter sequence

Search SABiosciences Chromatin IP Primers for ALAD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALAD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q33.1 Ensembl cytogenetic band: 9q32 HGNC cytogenetic band: 9q32

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

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M116148: view genomic region (about GC identifiers)

Start:	116,148,592 bp from pter	End:	116,163,618 bp from pter
Size:	15,027 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716 (See protein sequence)

Recommended Name: Delta-aminolevulinic acid dehydratase

Size: 330 amino acids; 36295 Da

Cofactor: Binds 8 zinc ions per octamer. Only four zinc ions per octamer are required for full catalytic activity. Only

four zinc ions per octamer are tightly bound. Can bind 2 zinc ions per subunit. The first zinc ion is important for

catalysis

Subunit: Homooctamer; active form. Homohexamer; low activity form

Sequence caution: Sequence=AAH00977.3; Type=Erroneous initiation;

2 PDB 3D structures from and Proteopedia for ALAD:

1E51 (3D)

1PV8 (3D)

Secondary accessions: A8K375 B2R6F2 Q16870 Q16871 Q9BVQ9

Alternative splicing: 2 isoforms: P13716-1 P13716-2

Explore the universe of human proteins at neXtProt for ALAD: NX_P13716

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13716

4/11 DME Specific Peptides for ALAD (P13716) (see all 11)

LIYPIFV

YSAKFAS

GPFRDAA

LLRKTFP

ALAD Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000022.3

ENSEMBL proteins:

ENSP00000386284 ENSP00000392748 ENSP00000415737 ENSP00000398438 ENSP00000277315

Reactome Protein details: P13716
Human Recombinant Protein Products:

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	Novus Biologicals ALAD Proteins Novus Biologicals ALAD Lysates
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	ProSpec Recombinant Protein for ALAD
	Browse Proteins at Uscn

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

ALAD for ontologies About GeneDecksing

ALAD Antibody Products:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ALAD for domains About GeneDecksing

2 InterPro domains/families:

IPR013785 Aldolase_TIM

IPR001731 Porphobilinogen_synth

Graphical View of Domain Structure for InterPro Entry P13716

ProtoNet protein and cluster: P13716

1 Blocks protein family: IPB001731 Delta-aminolevulinic acid dehydratase

UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716

Similarity: Belongs to the ALADH family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716

Function: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per

subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen

Catalytic activity: 2 5-aminolevulinate = porphobilinogen + 2 H(2)O

Enzyme regulation: Can alternate between a fully active homooctamer and a low-activity homohexamer. A bound magnesium

ion may promote the assembly of the fully active homooctamer. The magnesium-binding site is absent in the low-activity

homohexamer. Inhibited by compounds that favor the hexameric state. Inhibited by divalent lead ions. The lead ions

partially displace the zinc cofactor

Biophysicochemical properties: Kinetic parameters: KM=0.09 mM for 5-aminolevulinate at pH 7; Vmax=43 umol/h/mg enzyme

at pH 7; pH dependence: Optimum pH is 6.8-7.3;

Genatlas biochemistry entry for ALAD:

delta-aminolevulinate dehydratase,cytosolic enzyme catalyzing porphibilinogen formation,second step of porphyrin

biosynthesis

Enzyme Number (IUBMB): EC 4.2.1.24¹ ²

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALAD
		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate ALAD (see all 34):
		hsa-miR-640 hsa-miR-330-5p hsa-miR-15a hsa-miR-4267 hsa-miR-424 hsa-miR-9 hsa-miR-629 hsa-miR-326

		SwitchGear 3'UTR luciferase reporter plasmid: ALAD 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALAD (see all 7) OriGene shRNA RFP: ALAD OriGene siRNA: ALAD
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAD

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	TAS	2063868
GO:0004655	porphobilinogen synthase activity	TAS	--
GO:0008270	zinc ion binding	IDA	11032836
GO:0032791	lead ion binding	IDA	11032836
GO:0042802	identical protein binding	IPI	11032836

ALAD for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

heme biosynthesis II

heme biosynthesis II	1.00	tetrapyrrole biosynthesis II	0.57
Heme biosynthesis	0.78	Metabolism of porphyrins	0.50
Heme Biosynthesis	0.78

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Glucuronidation

Porphyrin and chlorophyll metabolism

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for ALAD

	Heme Biosynthesis
	tetrapyrrole biosynthesis II
	heme biosynthesis II

3 Reactome Pathways for ALAD

	Metabolism of porphyrins
	Heme biosynthesis
	Metabolism

2 Kegg Pathways (Kegg details for ALAD):

	Porphyrin and chlorophyll metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716

Pathway: Porphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 1/4

ALAD for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ALAD

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/37 Interacting proteins for ALAD (P13716³ ENSP00000386284⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KPNB1	Q14974³, ENSP00000290158⁴	I2D: score=5 STRING: ENSP00000290158
HMBS	P08397³, ENSP00000278715⁴	I2D: score=2 STRING: ENSP00000278715
AMPD2	Q01433³, ENSP00000256578⁴	I2D: score=1 STRING: ENSP00000256578
FEN1	P39748³, ENSP00000305480⁴	I2D: score=1 STRING: ENSP00000305480
UROD	P06132³, ENSP00000246337⁴	I2D: score=2 STRING: ENSP00000246337

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006778	porphyrin-containing compound metabolic process	TAS	--
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	--
GO:0006783	heme biosynthetic process	TAS	--
GO:0033014	tetrapyrrole biosynthetic process	--	--
GO:0044281	small molecule metabolic process	TAS	--

ALAD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ALAD for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ALAD

3 HMDB Compounds for ALAD About this table

Compound	Synonyms	CAS #	PubMed Ids
Formyl-CoA	Formyl coenzyme A	13131-49-2	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Porphobilinogen	5-(aminomethyl)-4-(carboxymethyl)-Pyrrole-3-propionate (see all 4)	487-90-1	--

8 DrugBank Compounds for ALAD About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Aminolevulinic acid	5-Aminolevulinic acid (see all 4)	106-60-5	target	inducer	12107644 12079382 10879826 11906825 10519994 11752352 10812836
Delta-Amino Valeric Acid	--	--	target	--	17139284 17016423 10592235
Laevulinic Acid	--	123-76-2	target	--	17139284 17016423 10592235
Porphobilinogen	2-aminomethylpyrrol-3-acetic acid 4-propionic acid (see all 3)	487-90-1	target	--	17139284 17016423 10592235
3-(2-Aminoethyl)-4-(Aminomethyl)Heptanedioic Acid	--	--	target	--	17139284 17016423
5-hydroxyvaleric acid	5-hydroxy valeric acid (see all 7)	13392-69-3	target	--	16131755 10592235
4,7-Dioxosebacic Acid	--	--	target	--	10592235
4-Oxosebacic Acid	--	--	target	--	10592235

10/53 Novoseek chemical compound relationships for ALAD gene (see all 53) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
5-aminolevulinic acid	96.6	459	8720283 (6), 1814648 (5), 2061546 (5), 10940976 (4) (see all 99)
porphobilinogen	94	100	1892953 (4), 11032841 (3), 1346974 (2), 11032836 (2) (see all 46)
lead	88.1	536	11049814 (6), 11237505 (6), 12896855 (5), 9353844 (5) (see all 99)
succinylacetone	87.8	19	11545591 (2), 19597542 (1), 15498530 (1), 2359685 (1) (see all 10)
zinc protoporphyrin	87.3	72	2248552 (4), 7897696 (3), 19733117 (3), 11413692 (3) (see all 22)
protoporphyrin ix	76.1	37	8699556 (2), 2319333 (2), 19789817 (2), 7749999 (1) (see all 20)
diphenyldiselenide	75.6	9	18804525 (3), 16364531 (1)
uroporphyrin i	73.2	2	8174759 (1), 2319333 (1)
dmsa	65.6	10	15016592 (2), 11800328 (1), 12499112 (1), 9124882 (1) (see all 6)
porphyrin	65.6	7	1814648 (1), 9732973 (1), 11504449 (1), 10666591 (1) (see all 5)

Search CenterWatch for drugs/clinical trials and news about ALAD / HEM2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ALAD gene (2 alternative transcripts):

NM_000031.5 NM_001003945.1

Unigene Cluster for ALAD:

Aminolevulinate dehydratase

Hs.1227 [show with all ESTs]

Unigene Representative Sequence: AK131490

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000409155(uc011lxe.2 uc011lxf.2) ENST00000482847(uc004bhl.4)

ENST00000468504 ENST00000464749 ENST00000448137 ENST00000482001 ENST00000452726

ENST00000494848 ENST00000445750 ENST00000277315

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		8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate ALAD (see all 34):
		hsa-miR-640 hsa-miR-330-5p hsa-miR-15a hsa-miR-4267 hsa-miR-424 hsa-miR-9 hsa-miR-629 hsa-miR-326

		SwitchGear 3'UTR luciferase reporter plasmid: ALAD 3' UTR sequence

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Additional cDNA sequence:

AK131490.1 AK290490.1 AK295945.1 AK312552.1 BC000977.3 BC128443.1 M13928.1 S99468.1

S99471.1

17 DOTS entries:

DT.414271 DT.100711968 DT.121153503 DT.121153528 DT.100787710 DT.101966724 DT.100787711 DT.91844029

DT.100787712 DT.121153515 DT.121153519 DT.121153520 DT.424452 DT.92067816 DT.100674277 DT.91677266

DT.91771238

24/141 AceView cDNA sequences (see all 141):

AA720970 C21253 NM_000031 NM_001003945 BM662721 AK131490 CF887168 BU625796

BQ447810 AV653915 CF527855 BX955509 BF446229 AI536541 AW449465 CA391429

AI908103 AL118842 BQ923725 AW817066 BX104406 BC000977 BM463750 BX368246

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for ALAD (see all 15) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	·	10c	^	11a	·	11b	·	11c	^	12a	·	12b	^	13	^	14a	·	14b	^
SP1:					-		-		-		-		-		-						-		-		-										-
SP2:					-		-		-		-		-		-						-		-												-
SP3:					-		-		-		-		-		-						-		-		-										-
SP4:					-				-		-		-		-						-		-		-										-
SP5:					-		-		-		-		-		-						-		-		-										-

ExUns:	15	^	16	^	17	^	18	^	19a	·	19b
SP1:					-
SP2:					-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for ALAD

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ALAD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTCAGAACAC

About this image

ALAD expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ALAD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALAD

SOURCE GeneReport for Unigene cluster: Hs.1227

SABiosciences Expression via Pathway-Focused PCR Array including ALAD:

Drug Metabolism in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for ALAD gene from 10/37 species (see all 37) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Alad^{1 , 5}	aminolevulinate, delta-, dehydratase^{1, 5}	87.17(n)¹ 89.09(a)¹		4 (33.17 cM)⁵ 17025¹ NM_008525.3¹ NP_032551.3¹ 62509169⁵
chicken (Gallus gallus)	Aves	ALAD¹	aminolevulinate dehydratase	75.25(n) 78.48(a)		417274 XM_003642250.1 XP_003642298.1
lizard (Anolis carolinensis)	Reptilia	ALAD⁶	--	72(a)	1 ↔ 1	AAWZ02036331(1656-9471)
African clawed frog (Xenopus laevis)	Amphibia	Xl.10336²	Xenopus laevis transcribed sequence with moderate similarity more	76.12(n)		BX854822.1
zebrafish (Danio rerio)	Actinopterygii	Dr.13193²	Transcribed sequence with weak similarity to protein more	73.73(n)		CK352333.1
fruit fly (Drosophila melanogaster)	Insecta	CG10335³ Pbgs¹	porphobilinogen synthase³ Porphobilinogen synthase¹	61(a)³ 62.55(n)¹ 62.34(a)¹		69A4³ 39402¹ NM_140307.3¹ NP_648564.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	HEM2¹	Hem2p	52.37(n) 54.01(a)		852842 NP_011475.1
thale cress (Arabidopsis thaliana)	eudicotyledons	HEMB1⁶ hemb2⁶	porphobilinogen synthase	30(a) 27(a)	possible ortholog possible ortholog	1(26231804-26234963) 1(16831016-16833916)
rice (Oryza sativa)	Liliopsida	--	delta-aminolevulinic acid dehydratase, chloroplast...	30(a)	1 ↔ 1	6(29756047-29760837)
E. coli (Escherichia coli)	Gamma proteobacteria	hemB⁶	5-aminolevulinate dehydratase (porphobilinogen syn...	40(a)	1 ↔ 1	Chromosome(387977-388951)

ENSEMBL Gene Tree for ALAD (if available)
TreeFam Gene Tree for ALAD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716

Polymorphism: There are two common alleles of ALAD. Individuals heterozygous or homozygous for ALAD*2 Asn-59 have

significantly higher blood lead levels than do ALAD*1 Lys-59 homozygotes when exposed to environmental lead

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1800435^1,2	C,F,H,	non-pathogenic	116153891(-)	`GTGAAG/CCGGCT`	2	/N /K	mis¹ ese³		21		NA MN NS EA EU	7436
rs142555289^1,2		--	116148098(+)	`TGTGGC/TGCCAT`	1	--	ds500¹		0	--	--	--	--
rs7042485^1,2	C,F,A,H,	--	116148241(+)	`TTAACA/GACTAT`	1	--	ds500¹		113		NS EA PA EU CA WA NA CSA	6918
rs146856745^1,2		--	116148281(+)	`GCTGGA/CAAGTG`	1	--	ds500¹		0	--	--	--	--
rs818704^1,2	C,F,H,	--	116148316(+)	`CTGGGG/ACAAAC`	1	--	ds500¹		19		NS EA NA	2352
rs140658792^1,2		--	116148375(+)	`GGGCCC/TAACCA`	1	--	ds500¹		0	--	--	--	--
rs818705^1,2	C,F,A,H,	--	116148493(+)	`TCCCCC/GTATAA`	1	--	ds500¹		20		NS EA NA WA CSA	1215
rs818706^1,2	C,F,A,H,	--	116148630(+)	`CTTTAT/CAACTT`	1	--	ut3¹		22		NS EA NA WA CSA	2343
rs142213018^1,2	C,	--	116148768(+)	`TTGAC-/TTATGAT`	1	--	ut3¹		0	--	--	--	--
rs41276803^1,2		--	116148777(+)	`GATCAC/TATTTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ALAD (116148592 - 116163618 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for ALAD
2 CNVs: 83161 96270
Human Gene Mutation Database (HGMD): ALAD

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALAD

DNA2.0 Custom Variant and Variant Library Synthesis for ALAD

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ALAD for disorders           About GeneDecksing

OMIM gene information: 125270
OMIM disorders: 612740
UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716

Defects in ALAD are the cause of acute hepatic porphyria (AHEPP) [MIM:612740]. A form of porphyria. Porphyrias

are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins

or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency

occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal

colic, paralysis, and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation,

infections, or endocrine factors

20/41 diseases for ALAD (see all 41): About MalaCards

lead poisoning porphyria acute hepatic porphyria aminolevulinate dehydratase deficiency porphyria

porphyria cutanea tarda tyrosinemia type i tyrosinemia hepatitis

variegate porphyria acute intermittent porphyria amyotrophic lateral sclerosis coproporphyria

lateral sclerosis hypochromic anemia cutaneous porphyria essential tremor

acute porphyria tremor uremia peripheral neuropathy

2 diseases from the University of Copenhagen DISEASES database for ALAD:

Tyrosinemia Acute intermittent porphyria

10/26 Novoseek disease relationships for ALAD gene (see all 26) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
porphyria	85.5	62	17236137 (4), 9516683 (3), 10211628 (3), 15303011 (3) (see all 23)
porphyria hepatic	83.9	15	8100994 (3), 2222472 (2), 1905639 (1), 8292661 (1) (see all 8)
porphyria acute intermittent	75.8	6	8292661 (1), 8845420 (1), 7616649 (1), 10604794 (1) (see all 6)
coproporphyria hereditary	74.7	1	8292661 (1)
porphyria, congenital erythropoietic	73.7	1	7616649 (1)
porphyria variegate	72.8	3	8292661 (1), 19389274 (1), 12809070 (1)
tyrosinemias	66.8	1	2359685 (1)
poisoning	65.1	32	10644722 (2), 12411083 (2), 8105909 (2), 11032836 (1) (see all 19)
tyrosinemia type i	62.1	3	7616655 (1), 11468232 (1)
porphyria cutanea tarda	61.4	4	8292661 (1), 8845420 (1), 7616649 (1), 8100994 (1)

Genatlas disease: ALAD

porphyria,acute,hepatic

Genetic Association Database (GAD): ALAD
Human Genome Epidemiology (HuGE) Navigator: ALAD (59 documents)

Export disorders for ALAD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ALAD gene, integrated from 9 sources (see all 309):
(articles sorted by number of sources associating them with ALAD)

Utopia: connect your pdf to the dynamic
world of online information

A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity. (PubMed id 10519994)^{1, 2, 7, 9} Akagi R.... Sassa S. (1999)
Allosteric inhibition of human porphobilinogen synthase. (PubMed id 19812033)^{1, 2, 9} Lawrence S.H.... Jaffe E.K. (2009)
A delta-aminolevulinic acid dehydratase (ALAD) polymorphism may modify the relationship of low-level lead exposure to uricemia and renal function: the normative aging study. (PubMed id 12611663)^{1, 4, 9} Wu M.T....Hu H. (2003)
Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. (PubMed id 10706561)^{1, 2, 9} Akagi R.... Sassa S. (2000)
Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. (PubMed id 1569184)^{1, 2, 9} Ishida N....Sassa S. (1992)
The molecular mechanism of lead inhibition of human porphobilinogen synthase. (PubMed id 11032836)^{1, 2, 9} Jaffe E.K.... Dunbrack R.L. Jr. (2001)
Lack of association of delta-aminolevulinic acid dehydratase genotype with cytogenetic damage in lead workers. (PubMed id 15258767)^{1, 4, 9} Wu F.Y....Kuo H.W. (2004)
Amyotrophic lateral sclerosis, lead, and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes. (PubMed id 12896855)^{1, 4, 9} Kamel F....Taylor J.A. (2003)
[The gene polymorphism of delta-aminolevulinate dehydratase (ALAD) in 530 cases of Chinese Han population] (PubMed id 11860952)^{1, 4, 9} Zheng Y....Wang Y. (2001)
Associations of renal function with polymorphisms in the delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase genes in Korean lead workers. (PubMed id 14527840)^{1, 4, 9} Weaver V.M....Lee B.K. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 210	HGNC: 395	AceView: ALAD	Ensembl:ENSG00000148218	euGenes: HUgn210
ECgene: ALAD	Kegg: 210	H-InvDB: ALAD

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for ALAD	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALAD
NIEHS-SNPs	http://egp.gs.washington.edu/data/alad/

Intellectual Property for ALAD gene
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Patent Information for ALAD gene:
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GeneCards and IP:
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aminolevulinate dehydratase

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ENZYME DEFICIENCY
Porphyria
Meningioma
Brain Tumors
Coproporphyria Hereditary
Genetic Susceptibility
Porphyria Acute Intermittent
Glioma
Malaria
Tyrosinemias
PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Porphyria Cutanea Tarda
TOXICITY RENAL
Liver diseases
Intoxication
LIVER DAMAGE
Alcoholism
chronic liver disease
Porphyria Variegate
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ALAD Gene

aminolevulinate dehydratase

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