≡

Aminolevulinate Delta Synthase 2 (ALAS2)

[Edit]

ASB; XLSA; ALASE; ANH1; Sideroblastic/Hypochromic Anemia; Delta-ALA synthase 2; 5-aminolevulinic acid synthase 2; 5-aminolevulinate synthase, erythroid-specific, mitochondrial

Aminolevulinate Delta Synthase 2 (ALAS2)
CCC F208
HGNC 397
MGI 87990
PubMed 21653323
RGD 2084
UniProt P22557
Wiki ALAS2
ALAS2 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.Two forms of ALAS exist in humans: a housekeeping form encoded by the ALAS1 gene and an erythroid tissue-specific form encoded by the ALAS2 gene (Bishop et al., 1990).Astrin and Bishop (1989) isolated the ALAS2 gene from an erythroid human fetal liver library. ALAS2 appeared to be expressed only in erythroid cells.Surinya et al. (1998) determined that the ALAS2 gene spans about 35 kb and contains 11 exons. An erythroid-specific enhancer in intron 8 contains GATA and CACCC boxes that are conserved in mouse and canine Alas2.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF208Hu01 Recombinant Aminolevulinate Delta Synthase 2 (ALAS2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAF208Hu01 Polyclonal Antibody to Aminolevulinate Delta Synthase 2 (ALAS2) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Aminolevulinate Delta Synthase 2 (ALAS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aminolevulinate Delta Synthase 2 (ALAS2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF208Mu01 Recombinant Aminolevulinate Delta Synthase 2 (ALAS2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Aminolevulinate Delta Synthase 2 (ALAS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aminolevulinate Delta Synthase 2 (ALAS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aminolevulinate Delta Synthase 2 (ALAS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aminolevulinate Delta Synthase 2 (ALAS2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aminolevulinate Delta Synthase 2 (ALAS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aminolevulinate Delta Synthase 2 (ALAS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aminolevulinate Delta Synthase 2 (ALAS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aminolevulinate Delta Synthase 2 (ALAS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aminolevulinate Delta Synthase 2 (ALAS2) ELISA Kit Customized Service Offer
  1. "Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes."Nucleic Acids Res. 18:7187-7188(1990) [PubMed] [Europe PMC] [Abstract]
  2. "Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA."EMBO J. 10:1891-1902(1991) [PubMed] [Europe PMC] [Abstract]
  3. "Identification and characterization of a conserved erythroid-specific enhancer located in intron 8 of the human 5-aminolevulinate synthase 2 gene."J. Biol. Chem. 273:16798-16809(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis."Int. J. Biochem. Cell Biol. 36:281-295(2004) [PubMed] [Europe PMC] [Abstract]
  8. "X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase."N. Engl. J. Med. 330:675-679(1994) [PubMed] [Europe PMC] [Abstract]
  9. "Enzymatic defect in 'X-linked' sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency."Proc. Natl. Acad. Sci. U.S.A. 89:4028-4032(1992) [PubMed] [Europe PMC] [Abstract]
  10. "R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity."Br. J. Haematol. 103:839-841(1998) [PubMed] [Europe PMC] [Abstract]
  11. "A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia."Am. J. Hematol. 62:112-114(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis."Blood 93:1757-1769(1999) [PubMed] [Europe PMC] [Abstract]
  13. "Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation."Blood 100:4236-4238(2002) [PubMed] [Europe PMC] [Abstract]
  14. "A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia."Clin. Chim. Acta 321:49-53(2002) [PubMed] [Europe PMC] [Abstract]
  15. "C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload."Am. J. Hum. Genet. 83:408-414(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations."Pediatr. Blood Cancer 54:273-278(2010) [PubMed] [Europe PMC] [Abstract]
  17. "New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine."Acta Haematol. 125:193-197(2011) [PubMed] [Europe PMC] [Abstract]
  18. "ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria."Blood 118:1443-1451(2011) [PubMed] [Europe PMC] [Abstract]
  19. "Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations." Hum. Mutat. 32:590-597(2011) [PubMed] [Europe PMC] [Abstract]