ALAS2

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Aminolevulinate, delta-, synthase 2
Identifiers
Symbols ALAS2 ; ALAS-E; ALASE; ANH1; ASB; XLDPP; XLEPP; XLSA; eALAS
External IDs OMIM301300 MGI87990 HomoloGene17 GeneCards: ALAS2 Gene
EC number 2.3.1.37
Orthologs
Species Human Mouse
Entrez 212 11656
Ensembl ENSG00000158578 ENSMUSG00000025270
UniProt P22557 P08680
RefSeq (mRNA) NM_000032 NM_001102446
RefSeq (protein) NP_000023 NP_001095916
Location (UCSC) Chr X:
55.04 – 55.06 Mb
Chr X:
150.55 – 150.57 Mb
PubMed search [1] [2]

Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene.[1][2][3] 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.[3]

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.

External links[edit]

References[edit]

  1. ^ Bishop DF, Henderson AS, Astrin KH (June 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: Delta-aminolevulinate synthase 2". 

Further reading[edit]

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