ALAS2

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ALAS2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesALAS2, ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, SIDBA1, 5'-aminolevulinate synthase 2
External IDsMGI: 87990 HomoloGene: 17 GeneCards: ALAS2
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for ALAS2
Genomic location for ALAS2
BandXp11.21Start55,009,055 bp[1]
End55,031,064 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000158578 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025270 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  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". Genomics. 13 (1): 211–2. doi:10.1016/0888-7543(92)90223-F. PMID 1577484. 
  7. ^ a b "Entrez Gene: Delta-aminolevulinate synthase 2". 

External links[edit]

External links[edit]

Further reading[edit]

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