ALAS2

Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene.^[5][6][7] ALAS2 is an aminolevulinic acid synthase.

PDBOrtholog search: PDBe RCSB

AliasesALAS2, ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, SIDBA1, 5'-aminolevulinate synthase 2

External IDsOMIM: 301300; MGI: 87990; HomoloGene: 17; GeneCards: ALAS2; OMA:ALAS2 - orthologs

Chr.X chromosome (human)^[1]

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ALAS2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1H7D, 1H7J
Identifiers
Aliases	ALAS2, ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, SIDBA1, 5'-aminolevulinate synthase 2
External IDs	OMIM: 301300; MGI: 87990; HomoloGene: 17; GeneCards: ALAS2; OMA:ALAS2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.21 Start 55,009,055 bp[1] End 55,030,977 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F3|X 68.46 cM Start 149,330,371 bp[2] End 149,353,634 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone bone marrow bone marrow cell blood mononuclear cell monocyte testicle placenta ganglionic eminence spleen Top expressed in blood fetal liver hematopoietic progenitor cell tibiofemoral joint spleen human fetus internal carotid artery left lung external carotid artery right lung right lung lobe More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity glycine binding protein binding catalytic activity pyridoxal phosphate binding acyltransferase activity 5-aminolevulinate synthase activity Cellular component mitochondrial matrix mitochondrion mitochondrial inner membrane Biological process response to hypoxia protoporphyrinogen IX biosynthetic process biosynthesis tetrapyrrole biosynthetic process heme biosynthetic process hemoglobin biosynthetic process erythrocyte differentiation metabolism oxygen homeostasis cellular iron ion homeostasis porphyrin-containing compound metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 212 11656 Ensembl ENSG00000158578 ENSMUSG00000025270 UniProt P22557 P08680 RefSeq (mRNA) NM_000032 NM_001037967 NM_001037968 NM_001037969 NM_001102446 NM_009653 RefSeq (protein) NP_000023 NP_001033056 NP_001033057 NP_001095916 NP_033783 Location (UCSC) Chr X: 55.01 – 55.03 Mb Chr X: 149.33 – 149.35 Mb PubMed search [3] [4]
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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.^[7]

Its gene contains an IRE in its 5'-UTR region on which an IRP binds if the iron level is too low, thus inhibiting its translation.