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.

ALAS2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesALAS2, ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, SIDBA1, 5'-aminolevulinate synthase 2
External IDsOMIM: 301300 MGI: 87990 HomoloGene: 17 GeneCards: ALAS2
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp11.21Start55,009,055 bp[1]
End55,030,977 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr X: 150.55 – 150.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

References

  1. GRCh38: Ensembl release 89: ENSG00000158578 - Ensembl, May 2017
  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.
  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.
  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.
  7. "Entrez Gene: Delta-aminolevulinate synthase 2".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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