ALAS2

ALAS2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases ALAS2, ALAS-E, ALASE, ANH1, ASB, XLDPP, XLEPP, XLSA, SIDBA1, 5'-aminolevulinate synthase 2
External IDs MGI: 87990 HomoloGene: 17 GeneCards: ALAS2
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_000023.2
NP_001033056.1
NP_001033057.1

NP_001095916.1
NP_033783.1

Location (UCSC) Chr X: 55.01 – 55.03 Mb Chr X: 150.55 – 150.57 Mb
PubMed search [1] [2]
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.[3][4][5] 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.[5]

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. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 "Entrez Gene: Delta-aminolevulinate synthase 2".

External links

Further reading

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


This article is issued from Wikipedia - version of the 5/19/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.