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ALAS2 Gene

protein-coding GIFtS: 60

GC0XM055053

aminolevulinate, delta-, synthase 2
(Previous names: aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: ASB)

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

Aliases
ALAS-E ^², ³
ALASE ^², ³
ANH1 ^², ⁵
ASB ^², ³, ⁵
EC 2.3.1.37 ^³
FLJ93603 ^²
OTTHUMP00000023388 ^²
OTTHUMP00000023389 ^²
XLSA ^²

Descriptions
5-aminolevulinate synthase 2 ^²
5-aminolevulinate synthase, erythroid-specific, mitochondrial ^²
5-aminolevulinic acid synthase ^², ³
Delta-ALA synthetase ^², ³
Delta-aminolevulinate synthase ^², ³
aminolevulinate, delta-, synthase 2 ^²
aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) ^¹

External Ids
HGNC: 397¹
Entrez Gene: 212²
UniProtKB: P22557³
Ensembl: ENSG00000158578⁷

Search outside databases for aliases for ALAS2 gene

Previous GC identifers: GC0XM051887 GC0XM052973 GC0XM053640 GC0XM054002 GC0XM054918

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for ALAS2:

The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The

encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene

cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript

variants encoding different isoforms have been identified. [provided by RefSeq]

(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)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ALAS2 gene

Entrez Gene cytogenetic band: Xp11.21 Ensembl cytogenetic band: Xp11.21 HGNC cytogenetic band: Xp11.21

ALAS2 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 X GeneLoc Exon Structure

GeneLoc location for GC0XM055053: (about GC identifiers)

Start:	55,052,213 bp from pter
End:	55,074,136 bp from pter
Size:	21,924 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011630.14

(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: HEM0_HUMAN, P22557 (See protein sequence)

Recommended Name: 5-aminolevulinate synthase, erythroid-specific, mitochondrial precursor

Size: 587 amino acids; 64633 Da

Cofactor: Pyridoxal phosphate

Subunit: Homodimer

Subcellular location: Mitochondrion matrix

Miscellaneous: There are two delta-ALA synthetase in vertebrates: an erythroid- specific form and

one (housekeeping) which is expressed in all tissues

Secondary accessions: Q13735

REFSEQ proteins (4 alternative transcripts):

NP_000023.2 NP_001033056.1 NP_001033057.1 NP_001033058.1

ENSEMBL proteins:

ENSP00000332369 ENSP00000379498 ENSP00000337131 ENSP00000379501

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for ALAS2
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ALAS2)
	Human Recombinant Proteins from Abnova (ALAS2)

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

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	10727444
GO:0005743	mitochondrial inner membrane	IDA	14643893
GO:0005759	mitochondrial matrix	IEA	--

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Antibodies for ALAS2:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for ALAS2
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ALAS2), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ALAS2)
	Novus Biologicals Antibodies for ALAS2

Assays for ALAS2:

	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 P22557

ProtoNet protein and cluster: P22557

1 Blocks protein family: IPB001917 Aminotransferase

UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557

Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family

(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 (ALAS2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ALAS2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001037967

Applied Biosystems Silencer® siRNAs for ALAS2

Sigma-Aldrich siRNA and siRNA Panels for ALAS2

Sigma-Aldrich shRNA Panels and shRNA for ALAS2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000032
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000032
untagged cDNA clones in CMV expression vector (see all 4): NM_000032

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000032

UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557

Catalytic activity: Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2)

Enzyme Number (IUBMB): EC 2.3.1.37

Genatlas biochemistry entry for ALAS2:

aminolevulinate,delta-,synthase 2,erythroid,mitochondrial,pyridoxal dependent,catalyzing the first

step of porphyrin biosynthesis,with a transcription factor binding site

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Alas2):

embryogenesis

hematopoietic system

homeostasis/metabolism

lethality-prenatal/perinatal

skin/coat/nails

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003870	5-aminolevulinate synthase activity	IDA	14643893
GO:0005515	protein binding	IPI	10727444 14643893 16234850
GO:0008415	acyltransferase activity	IEA	--
GO:0016769	transferase activity, transferring nitrogenous groups	IEA	--
GO:0030170	pyridoxal phosphate binding	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 ALAS2 (Your Favorite Gene powered by Ingenuity)

Glycine, Serine and Threonine Metabolism

GeneDecks ALAS2 for the pathways selected above

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UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557

Pathway: Porphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step

1/1

5/38 Interacting proteins for ALAS2 (ENSP00000332369³) via UniProtKB, MINT, and/or STRING (see all 38 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ALAD	ENSP00000363288³	STRING (score=.979)
CASP1	ENSP00000260309³	STRING (score=.928)
GCAT	ENSP00000248924³	STRING (score=.912)
AGXT	ENSP00000302620³	STRING (score=.906)
ALAS1	ENSP00000309259³	STRING (score=.906)

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5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IDA	16234850
GO:0006778	porphyrin metabolic process	IEA	--
GO:0006783	heme biosynthetic process	NAS	14643893
GO:0009058	biosynthetic process	IEA	--
GO:0030218	erythrocyte differentiation	NAS	2050125

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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

Sigma-Aldrich Small Molecules for ALAS2:

Mixed Agonist/Antagonist Antagonist

Browse Tocris compounds for ALAS2
10/13 Novoseek chemical compound relationships for ALAS2 gene (see all 13 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
5-aminolevulinic acid	89.90	51	8107717 (3), 2294742 (2), 8089650 (2), 12139757 (2) (see all 34)
iron	67.11	50	15885606 (4), 11039663 (3), 12139757 (2), 18637800 (2) (see all 20)
haem	53.67	3	9806542 (1), 12139757 (1), 18637800 (1)
protoporphyrin ix	49.13	2	15831703 (1), 11843825 (1)
asparagine	39.92	8	11551215 (2), 7907328 (2), 12531813 (1), 12890666 (1)
vanadate	24.97	1	9106619 (1)
leucine	22.15	1	16234850 (1)
proline	4.97	2	16234850 (2)
atp	0.00	1	12890666 (1)
oxygen	0.00	2	16234850 (2)

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)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ALAS2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ALAS2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001037967

Sigma-Aldrich siRNA and siRNA Panels for ALAS2

Sigma-Aldrich shRNA Panels and shRNA for ALAS2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000032 NM_001037967 NM_001037968

REFSEQ mRNAs for ALAS2 gene (4 alternative transcripts):

NM_000032.4 NM_001037967.3 NM_001037968.3 NM_001037969.1

NM_000032 NM_001037967 NM_001037968

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000032
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000032
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_000032

Additional cDNA sequence:

AK290565.1 AK291589.1 AK313118.1 BC030230.2 CR591435.1 CR593743.1 CR606333.1 CR606670.1

CR608649.1 CR609889.1 CR613185.1 CR615092.1 CR620984.1 CR626361.1 X56352.1 X60364.1

17 DOTS entries:

DT.100869641 DT.100038775 DT.100038774 DT.448590 DT.100669048 DT.100812198 DT.121301008 DT.95159804

DT.202594 DT.100830674 DT.97791106 DT.121301071 DT.95159810 DT.100803629 DT.100806515 DT.95159813

DT.95377534

24/272 AceView cDNA sequences (see all 272 ):

BM693641 BX367133 BU660825 BU664104 AL533802 AL700214 BX380113 BM720597

BX360872 CR606333 AA342031 BX427121 AL531498 BP374201 AU120290 AL531776

BX386537 BX380114 BC030230 BM669325 BX399320 BU663014 AL557952 T29077

highest scoring ESTs for ALAS2:

X60364 BU657828 BU657891 BU658655 BU661488 BU663292 AA010003 AA026133 AA332857 AA342031

Unigene Cluster for ALAS2:

Aminolevulinate, delta-, synthase 2

Hs.522666 [show with all ESTs]

Unigene Representative Sequence: NM_000032

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ALAS2 (see all 10 )

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

About this scheme

ECgene alternative splicing isoforms for ALAS2

4 Ensembl transcripts including schematic representations:

ENST00000330807 ENST00000396195 ENST00000335854 ENST00000396198

(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 )
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ALAS2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ALAS2

¹ / ² / ³

3 probe-sets matching ALAS2 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
37285_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	X60364	1.00	1.00	1.00	1
211560_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF130113	0.20	0.50	0.38	1
211560_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ALAS2 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGAAGCCTTT

SOURCE GeneReport for Unigene cluster: Hs.522666
Expression variation in blood from EXPOLDB for ALAS2
UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557
Tissue specificity: Erythroid specific

(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)
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Orthologs for ALAS2 gene from 5/14 species (see all 14 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ALAS2¹	--	aminolevulinate, delta-, synthase 2	90.46(n) 91.82(a)	491498 XM_548619.2 XP_548619.2
chimpanzee (Pan troglodytes)	ALAS2¹	--	aminolevulinate, delta-, synthase 2	92.12(n) 90.36(a)	473626 XM_001147099.1 XP_001147099.1
cow (Bos taurus)	ALAS2¹	--	aminolevulinate, delta-, synthase 2	91.03(n) 92.67(a)	511791 NM_001035103.1 NP_001030275.1
rat (Rattus norvegicus)	Alas2¹	--	aminolevulinate, delta-, synthase 2	88.06(n) 94.03(a)	25748 XM_001062452.1 XP_001062452.1
mouse (Mus musculus)	Alas2^{1, 5}	X (63.00 cM)⁵	aminolevulinic acid synthase 2, erythroid^{1, 5}	87.45(n)¹ 90.12(a)¹	11656¹ NM_009653.2¹ NP_033783.1¹ AF171078⁵ AK002642⁵ (see all 16)

About this table Species with no ortholog for ALAS2

ENSEMBL Gene Tree for ALAS2

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

Paralogs for ALAS2 gene

GCAT² ALAS1²

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

10/82 NCBI SNPs in ALAS2 are shown (see all 82 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 89)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs6612250^1,2	A,C,F,H	55052282(+)	`AGGAGT/GAGGCC`	3	--	ut3¹ ese³		12	EU EA WA NA NS	666
	rs704145^1,2	A,C,F,H	55052008(+)	`GCCATC/TTCAAA`	3	--	ng5¹		19	EU EA WA NA NS	1214
	rs5960385^1,2	A,F,H	55075086(+)	`TCTACA/GTATTG`	3	--	ng3¹		4	EU EA WA	418
	rs6612251^1,2	C,F,H	55052476(+)	`CCCACC/TGCAGT`	3	A/A	syn¹ ese³		9	EU EA WA NS	592
	rs12844681^1,2	H	55069024(+)	`TTTGGT/CCCTTG`	3	G/G	syn¹ ese³		4	EU EA WA	420
	rs983823^1,2	C,F,H,O	55073051(-)	`TGCAGC/TTGGCC`	3	--	int¹		11	EA WA NA	876
	rs727468^1,2	C,F,H,O	55061053(+)	`CTGGTC/GTAGCC`	3	--	int¹		11	EA NA EU WA	716
	rs1476012^1,2	A,C,F,H	55061869(-)	`tatcaC/Tagctt`	3	--	int¹		8	EU EA WA	626
	rs7881427^1,2	A,C,F,H	55056329(+)	`ggaagT/Cgggtc`	3	--	int¹		4	EU EA WA	416
	rs12008515^1,2	A,C,H	55056490(+)	`tgcttC/Ttcatt`	3	--	int¹		4	EU EA WA	412

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HapMap Linkage Disequilibrium images for ALAS2 (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.)
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OMIM: 301300 disorders: 300751 300752

UniProtKB/Swiss-Prot: HEM0_HUMAN, P22557

Defects in ALAS2 are a cause of anemia sideroblastic X-linked (XLSA) [MIM:300751].

Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral

erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the

presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded

mitochondria clustered around the nucleus. XLSA shows a variable hematologic response to

pharmacologic doses of pyridoxine

Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT)

[MIM:300752]. 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. XLDPT is a form of porphyria characterized biochemically by a high proportion of

zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the

heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in

amounts sufficient to cause photosensitivity and liver disease

10/12 Novoseek disease relationships for ALAS2 gene (see all 12 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
anemia sideroblastic	97.11	62	7912287 (3), 11877024 (3), 9226183 (2), 15498136 (2) (see all 40)
sideroblastic anemia acquired	87.86	1	1577484 (1)
microcytic anemia	80.56	1	9372069 (1)
iron overload	75.67	16	15885606 (4), 18637800 (1), 18760763 (1), 19066423 (1) (see all 6)
anemia macrocytic	56.43	1	9372069 (1)
erythroleukemia	48.57	1	9106619 (1)
anemia	46.91	10	15885606 (3), 16838333 (2), 9226183 (1), 18760763 (1) (see all 5)
anemia refractory	39.61	2	7560104 (2)
sickle cell disease	27.56	2	15885606 (1)
chemically induced	25.88	1	11039663 (1)

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Human Gene Mutation Database: ALAS2

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

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/112 PubMed articles for ALAS2 gene (see all 112 ):

Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene. (PubMed id 9642238)^{1, 3, 4} Surinya K.H.... May B.K. (1998)
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis. (PubMed id 10029606)^{1, 3, 4} Cotter P.D.... Bishop D.F. (1999)
Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations. (PubMed id 1577484)^{1, 2, 3} Cotter P.D....Bishop D.F. (1992)
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. (PubMed id 18760763)^{1, 3, 4} Whatley S.D....Puy H. (2008)
Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. (PubMed id 12393718)^{1, 3, 4} Cazzola M....Bishop D.F. (2002)
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388- to-Ser substitution in erythroid 5-aminolevulinate synthase. (PubMed id 8107717)^{1, 3, 4} Cox T.C....May B.K. (1994)
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity. (PubMed id 9858242)^{1, 3, 4} Furuyama K.... Yamamoto M. (1998)
Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA. (PubMed id 2050125)^{1, 3, 4} Cox T.C.... May B.K. (1991)
A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. (PubMed id 10577279)^{1, 3, 4} Harigae H....Sasaki T. (1999)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{3, 4} Ross M.T.... Bentley D.R. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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: 212	HGNC: 397	AceView: ALAS2	Ensembl:ENSG00000158578	euGenes: HUgn212
ECgene: ALAS2	H-InvDB: ALAS2

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
GeneReviews	http://www.genetests.org/query?gene=ALAS2

Licensable Technologies for ALAS2
(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)
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Products for ALAS2:

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 ALAS2-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 ALAS2		Antibodies for ALAS2
	Explore super-pooled esiRNAs		Proteins for ALAS2
	Lentivirus-delivered shRNAs for ALAS2		Small molecules for ALAS2
	"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 (ALAS2)
	Antibodies (ALAS2)
	Chimera RNAi (ALAS2)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

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	Recombinant Proteins (ALAS2)
	Antibodies (ALAS2)

Search OriGene for ALAS2

Search Tocris compounds for ALAS2

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for ALAS2

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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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ALAS2 Gene at Home site.
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ALAS2 Gene

protein-coding GIFtS: 60

Aliases &
Descriptions
for ALAS2

Summaries
for ALAS2

Genomic Location
for ALAS2

Proteins
for ALAS2

Protein Domains/
Families
for ALAS2

Gene Function
for ALAS2

Pathways & Interactions
for ALAS2

Drugs & Compounds
for ALAS2

Transcripts
for ALAS2

Expression
for ALAS2

Orthologs
for ALAS2

Paralogs
for ALAS2

SNPs/Variants
for ALAS2

Disorders & Mutations
for ALAS2

Medical News
for ALAS2

Publications
for ALAS2

Search for ALAS2

Genome Databases showing ALAS2

Other Databases showing ALAS2

Specialized Databases showing ALAS2

Licensable Technologies
for ALAS2

Services
for ALAS2

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

ALAS2 Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor ALAS2

Summariesfor ALAS2

Genomic Locationfor ALAS2

Proteinsfor ALAS2

Protein Domains/Familiesfor ALAS2

Gene Functionfor ALAS2

Pathways & Interactionsfor ALAS2

Drugs & Compoundsfor ALAS2

Transcriptsfor ALAS2

Expression for ALAS2

Orthologsfor ALAS2

Paralogsfor ALAS2

SNPs/Variantsfor ALAS2

Disorders & Mutationsfor ALAS2

Medical Newsfor ALAS2

Publicationsfor ALAS2

Search for ALAS2

Genome Databases showing ALAS2

Other Databases showing ALAS2

Specialized Databases showing ALAS2

Licensable Technologiesfor ALAS2

Servicesfor ALAS2

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 ALAS2

Summaries
for ALAS2

Genomic Location
for ALAS2

Proteins
for ALAS2

Protein Domains/
Families
for ALAS2

Gene Function
for ALAS2

Pathways & Interactions
for ALAS2

Drugs & Compounds
for ALAS2

Transcripts
for ALAS2

Expression
for ALAS2

Orthologs
for ALAS2

Paralogs
for ALAS2

SNPs/Variants
for ALAS2

Disorders & Mutations
for ALAS2

Medical News
for ALAS2

Publications
for ALAS2

Licensable Technologies
for ALAS2

Services
for ALAS2