ALAS2

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)
End	55,030,977 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	149,353,634 bp
RNA expression pattern
	Top expressed in
	trabecular bone; ; bone marrow; ; bone marrow cells; ; 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
	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
	212
	11656
	ENSG00000158578
	ENSMUSG00000025270
	P22557
	P08680
	NM_000032; NM_001037967; NM_001037968; NM_001037969
	NM_001102446; NM_009653
	NP_000023; NP_001033056; NP_001033057
	NP_001095916; NP_033783
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000158578 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025270 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Bishop DF, Henderson AS, Astrin KH (Jun 1990). "Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome". Genomics. 7 (2): 207–14. doi:10.1016/0888-7543(90)90542-3. PMID 2347585.
^ Cotter PD, Willard HF, Gorski JL, Bishop DF (May 1992). "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" (PDF). Genomics. 13 (1): 211–2. doi:10.1016/0888-7543(92)90223-F. hdl:2027.42/30074. PMID 1577484.
^ ^a ^b "Entrez Gene: Delta-aminolevulinate synthase 2".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000158578 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025270 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2347585-5] Bishop DF, Henderson AS, Astrin KH (Jun 1990). "Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome". Genomics. 7 (2): 207–14. doi:10.1016/0888-7543(90)90542-3. PMID 2347585.

[pmid1577484-6] Cotter PD, Willard HF, Gorski JL, Bishop DF (May 1992). "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" (PDF). Genomics. 13 (1): 211–2. doi:10.1016/0888-7543(92)90223-F. hdl:2027.42/30074. PMID 1577484.

[entrez-7] "Entrez Gene: Delta-aminolevulinate synthase 2".

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