ALAS2 Gene (Protein Coding)

5'-Aminolevulinate Synthase 2

GC0XM055009
GIFtS:
46
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, Jul 2008] See more...

Aliases for ALAS2 Gene

Aliases for ALAS2 Gene

  • 5'-Aminolevulinate Synthase 2 2 3 5
  • 5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial 3 4
  • Aminolevulinate, Delta-, Synthase 2 2 3
  • Delta-Aminolevulinate Synthase 2 3 4
  • 5-Aminolevulinic Acid Synthase 2 3 4
  • Delta-ALA Synthase 2 3 4
  • EC 2.3.1.37 4 52
  • ALAS-E 3 4
  • ALASE 3 4
  • ASB 3 4
  • Aminolevulinate, Delta-, Synthase 2 (Sideroblastic/Hypochromic Anemia) 2
  • Sideroblastic/Hypochromic Anemia 2
  • Delta-ALA Synthetase 3
  • SIDBA1 3
  • XLDPP 3
  • XLEPP 3
  • ANH1 3
  • XLSA 3

External Ids for ALAS2 Gene

Previous HGNC Symbols for ALAS2 Gene

  • ASB

Previous GeneCards Identifiers for ALAS2 Gene

  • GC0XM051887
  • GC0XM052973
  • GC0XM053640
  • GC0XM054002
  • GC0XM054918
  • GC0XM055053
  • GC0XM052086
  • GC0XM055035

Summaries for ALAS2 Gene

Entrez Gene Summary for ALAS2 Gene

  • 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, Jul 2008]

GeneCards Summary for ALAS2 Gene

ALAS2 (5'-Aminolevulinate Synthase 2) is a Protein Coding gene. Diseases associated with ALAS2 include Anemia, Sideroblastic, 1 and Protoporphyria, Erythropoietic, X-Linked. Among its related pathways are Metabolism and Glycine, serine and threonine metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and glycine binding. An important paralog of this gene is ALAS1.

Gene Wiki entry for ALAS2 Gene

Additional gene information for ALAS2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALAS2 Gene

Genomics for ALAS2 Gene

GeneHancer (GH) Regulatory Elements for ALAS2 Gene

Promoters and enhancers for ALAS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XJ055031 Promoter 0.7 EPDnew 500.7 +0.2 180 0.1 VEZF1 ATF4 POLR2A MLLT1 ZNF512 ZNF24 PRDM1 ALAS2 PAGE2B lnc-PFKFB1-2
GH0XJ055030 Promoter 0.6 EPDnew 500.7 +0.1 67 0.1 VEZF1 POLR2A ZNF512 ZNF24 ALAS2 PAGE2B lnc-PFKFB1-2
GH0XJ055032 Enhancer 0.5 Ensembl 500.7 +0.6 563 0.2 ZNF639 ATF4 MLLT1 ZNF512 ZNF24 PRDM1 ALAS2 PAGE2B lnc-PFKFB1-2
GH0XJ055074 Promoter 0.6 EPDnew 13.3 -43.9 -43945 0.1 NRF1 MAX E2F6 ZNF639 L3MBTL2 MGA PAGE2B ALAS2 piR-57965-061 PAGE2
GH0XJ055016 Enhancer 0.2 FANTOM5 3.5 +14.5 14489 0.2 ALAS2 lnc-ALAS2-2 PAGE2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALAS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALAS2

Top Transcription factor binding sites by QIAGEN in the ALAS2 gene promoter:
  • FOXL1
  • GATA-1
  • GCNF
  • GCNF-1
  • GCNF-2
  • IRF-1
  • IRF-2
  • TBP

Genomic Locations for ALAS2 Gene

Genomic Locations for ALAS2 Gene
chrX:55,009,055-55,031,064
(GRCh38/hg38)
Size:
22,010 bases
Orientation:
Minus strand
chrX:55,035,488-55,057,497
(GRCh37/hg19)
Size:
22,010 bases
Orientation:
Minus strand

Genomic View for ALAS2 Gene

Genes around ALAS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALAS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALAS2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ALAS2 Gene

Proteins for ALAS2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ALAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22557-HEM0_HUMAN
    Recommended name:
    5-aminolevulinate synthase, erythroid-specific, mitochondrial
    Protein Accession:
    P22557
    Secondary Accessions:
    • A8K3F0
    • A8K6C4
    • Q13735
    • Q5JZF5
    • Q8N6H3

    Protein attributes for ALAS2 Gene

    Size:
    587 amino acids
    Molecular mass:
    64633 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer. Interacts with SUCLA2.
    Miscellaneous:
    • There are two delta-ALA synthases in vertebrates: an erythroid- specific form and one (housekeeping) which is expressed in all tissues.
    • [Isoform 2]: Constitutes 35-45% of erythrocytes ALAS2 mRNAs. Catalytic activity is 70% of isoform 1 activity.
    • [Isoform 3]: Catalytic activity is 80% of isoform 1 activity.
    SequenceCaution:
    • Sequence=CAA39795.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ALAS2 Gene

    Alternative splice isoforms for ALAS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALAS2 Gene

Protein Expression for ALAS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ALAS2 Gene

P22557:
  • FSSCFVAND
  • DEVHAVGLYG
  • EGQALRRAHQRNVKHMRQLL
  • VWCSNDYL
  • VHSMDGA
  • GCVGGYIA
  • GALESVR
  • VANDSTL
  • CNFCRRP
  • SDAGNHASMI
  • PKIVAFE
  • HFELMSE
  • PGCEIYSD
  • GFIFTTSLPP
  • DIISGTLGKA
  • VDMVRSYA
  • IYVQAIN
  • YRVFKTVNR
  • CPSHIIP
  • GAGGTRNI

Post-translational modifications for ALAS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALAS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALAS2 Gene

Gene Families for ALAS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ALAS2 Gene

Blocks:
  • Aminotransferase, class-II
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALAS2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93603, highly similar to Homo sapiens aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) (ALAS2), nuclear gene encoding mitochondrial protein, mRNA (A8K3F0_HUMAN)
  • cDNA FLJ77319, highly similar to Homo sapiens aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia), mRNA (A8K6C4_HUMAN)
  • Aminolevulinate, delta-, synthase 2 (B7ZB88_HUMAN)
  • Delta-aminolevulinate synthase 2 (HEM0_HUMAN)
  • 5-aminoevulinate synthase 2 (Q6QNT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22557

UniProtKB/Swiss-Prot:

HEM0_HUMAN :
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ALAS2: view

Function for ALAS2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ALAS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoA; Xref=Rhea:RHEA:12921, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292, ChEBI:CHEBI:57305, ChEBI:CHEBI:356416; EC=2.3.1.37; Evidence=. ;.
GENATLAS Biochemistry:
aminolevulinate,delta-,synthase 2,erythroid,mitochondrial,pyridoxal dependent,catalyzing the first step of porphyrin biosynthesis,with a transcription factor binding site

Enzyme Numbers (IUBMB) for ALAS2 Gene

Gene Ontology (GO) - Molecular Function for ALAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003870 5-aminolevulinate synthase activity IDA,IEA 14643893
GO:0005515 protein binding IPI 10727444
GO:0016594 glycine binding ISS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with ALAS2: view
genes like me logo Genes that share phenotypes with ALAS2: view

Human Phenotype Ontology for ALAS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALAS2 Gene

MGI Knock Outs for ALAS2:

Animal Model Products

CRISPR Products

miRNA for ALAS2 Gene

miRTarBase miRNAs that target ALAS2

Clone Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ALAS2 Gene

Localization for ALAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALAS2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALAS2 gene
Compartment Confidence
mitochondrion 5
extracellular 3
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ALAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005739 mitochondrion IDA,IEA 10727444
GO:0005743 mitochondrial inner membrane IDA 14643893
GO:0005759 mitochondrial matrix IEA,TAS --
genes like me logo Genes that share ontologies with ALAS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ALAS2 Gene

Pathways & Interactions for ALAS2 Gene

genes like me logo Genes that share pathways with ALAS2: view

Pathways by source for ALAS2 Gene

3 BioSystems pathways for ALAS2 Gene
3 Reactome pathways for ALAS2 Gene

UniProtKB/Swiss-Prot P22557-HEM0_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.

SIGNOR curated interactions for ALAS2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ALAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 16234850
GO:0006778 porphyrin-containing compound metabolic process IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0006879 cellular iron ion homeostasis ISS --
genes like me logo Genes that share ontologies with ALAS2: view

Drugs & Compounds for ALAS2 Gene

Products:

  1. Drug

(20) Drugs for ALAS2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Full agonist, Agonist, Target 369
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 20
Aminolevulinic acid Approved Pharma 196
Iron Approved, Experimental Pharma 1496
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0

(8) Additional Compounds for ALAS2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Formyl-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
 13131-49-2
genes like me logo Genes that share compounds with ALAS2: view

Transcripts for ALAS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ALAS2 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALAS2 Gene

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: - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - - -
SP9: - - - - -
SP10: - - - - -

Relevant External Links for ALAS2 Gene

GeneLoc Exon Structure for
ALAS2

Expression for ALAS2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ALAS2 Gene

mRNA expression in normal human tissues for ALAS2 Gene
mRNA expression by GTEx for ALAS2 GenemRNA expression by BioGPS for ALAS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALAS2 Gene

This gene is overexpressed in Whole Blood (x51.5).

Protein differential expression in normal tissues from HIPED for ALAS2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.1) and Fetal Liver (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALAS2 Gene



Protein tissue co-expression partners for ALAS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALAS2

SOURCE GeneReport for Unigene cluster for ALAS2 Gene:

Hs.522666

mRNA Expression by UniProt/SwissProt for ALAS2 Gene:

P22557-HEM0_HUMAN
Tissue specificity: Erythroid specific.

Evidence on tissue expression from TISSUES for ALAS2 Gene

  • Blood(4.9)
  • Liver(4.7)
  • Lung(4.2)
  • Pancreas(4)
  • Bone marrow(3.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALAS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • gallbladder
  • intestine
  • liver
  • pancreas
  • small intestine
General:
  • blood
  • blood vessel
  • bone marrow
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ALAS2: view

Orthologs for ALAS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ALAS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ALAS2 30
  • 92.12 (n)
cow
(Bos Taurus)
 Mammalia ALAS2 31 30
  • 91.03 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ALAS2 31 30
  • 91.02 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Alas2 17 31 30
  • 87.45 (n)
rat
(Rattus norvegicus)
 Mammalia Alas2 30
  • 86.37 (n)
oppossum
(Monodelphis domestica)
 Mammalia ALAS2 31
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ALAS2 31
  • 74 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ALAS2 31
  • 64 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia alas2 30
  • 69.59 (n)
zebrafish
(Danio rerio)
 Actinopterygii alas2 31 30 30
  • 64.54 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Alas 31 32 30
  • 59.5 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003184 30
  • 57.86 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0C15059g 30
  • 53.6 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ABL104C 30
  • 52.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HEM1 33 31 30
  • 52.09 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU06189 30
  • 59.6 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes hem1 30
  • 53.03 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.8623 31
  • 52 (a)
 OneToMany
Species where no ortholog for ALAS2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALAS2 Gene

ENSEMBL:
Gene Tree for ALAS2 (if available)
TreeFam:
Gene Tree for ALAS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALAS2: view image

Paralogs for ALAS2 Gene

Paralogs for ALAS2 Gene

(2) SIMAP similar genes for ALAS2 Gene using alignment to 4 proteins:

  • HEM0_HUMAN
  • H0Y6R3_HUMAN
  • Q6QNT2_HUMAN
  • Q86YM3_HUMAN
genes like me logo Genes that share paralogs with ALAS2: view

Variants for ALAS2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALAS2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
673081 Benign: not provided 55,013,171(-) T/C INTRON_VARIANT
674110 Benign: not provided 55,023,560(-) T/C INTRON_VARIANT
674111 Likely Benign: not provided 55,015,916(-) C/T INTRON_VARIANT
674644 Benign: not provided 55,021,308(-) G/A INTRON_VARIANT
681414 Likely Benign: not provided 55,017,645(-) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ALAS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ALAS2 Gene

Variant ID Type Subtype PubMed ID
esv2740175 CNV deletion 23290073
nsv435891 CNV deletion 17901297

Variation tolerance for ALAS2 Gene

Residual Variation Intolerance Score: 70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALAS2 Gene

Human Gene Mutation Database (HGMD)
ALAS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALAS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALAS2 Gene

Disorders for ALAS2 Gene

MalaCards: The human disease database

(29) MalaCards diseases for ALAS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ALAS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEM0_HUMAN
  • Anemia, sideroblastic, 1 (SIDBA1) [MIM:300751]: A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. 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. {ECO:0000269 PubMed:10029606, ECO:0000269 PubMed:10577279, ECO:0000269 PubMed:12031592, ECO:0000269 PubMed:12393718, ECO:0000269 PubMed:1570328, ECO:0000269 PubMed:19731322, ECO:0000269 PubMed:21252495, ECO:0000269 PubMed:21309041, ECO:0000269 PubMed:8107717, ECO:0000269 PubMed:9858242}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Erythropoietic protoporphyria, X-linked dominant (XLDPT) [MIM:300752]: 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. XLDPT is 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. {ECO:0000269 PubMed:18760763}. Note=The disease is caused by mutations affecting the gene represented in this entry. Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). {ECO:0000269 PubMed:21309041}.

Additional Disease Information for ALAS2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALAS2: view

No data available for Genatlas for ALAS2 Gene

Publications for ALAS2 Gene

  1. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. (PMID: 19731322) Bergmann AK … Neufeld EJ (Pediatric blood & cancer 2010) 3 4 23 54
  2. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. (PMID: 18760763) Whatley SD … Puy H (American journal of human genetics 2008) 3 4 23 54
  3. The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis. (PMID: 14643893) Cox TC … May BK (The international journal of biochemistry & cell biology 2004) 3 4 23 54
  4. Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation. (PMID: 12393718) Cazzola M … Bishop DF (Blood 2002) 3 4 23 54
  5. 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. (PMID: 10029606) Cotter PD … Bishop DF (Blood 1999) 3 4 23 54

ExternalLinks

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