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ALAS2


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Symbol:ALAS2
Name(s):aminolevulinate, delta-, synthase 2
Type:protein-coding
Organism:Homo sapiens
Synonyms:ANH1, ASB, XLSA
Links: Pubmed, Entrez Gene, GeneCards, BioGPS, Map Viewer.

Gene Information from Publications

Publication Link Summary of findings
16446107 ALAS2 mutations might contribute to more severe iron loading in persons with primary hemochromatosis.
12663458 A C to G transversion at nucleotide -206 from the transcription start site was found in the proximal promoter region of ALAS2 in X-linked sideroblastic anemia. The region of the mutation may bind a novel and important erythroid regulatory element.
14643893 the major splice isoform of ALAS2 is functional in vivo and could significantly contribute to erythroid heme biosynthesis and hemoglobin formation
15166166 there is nucleotide variation at Msn and Alas2 on the X chromosome
16121195 sequence identity of ALAS from Rhodobacter capsulatus and human eALAS is 49%
12031592 A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.

Interacting gene products

Interaction Type Gene 1 Gene 2 Interaction description Complex Publication Link
HPRDDelta aminolevulinate synthase 2succinate-CoA ligase, ADP-forming, beta subunit--Pubmed
HPRDaminolevulinate, delta-, synthase 2Succinyl CoA synthetase,beta A chain--Pubmed

Recent Publications on ALAS2:

Pubmed Logo
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
Inherited sideroblastic anemia comprises several rare anemias due to...
30th September, 2009
Vita-Salute University and San Raffaele Scientific Institute, Milan, Semin Hematol. 2009 Oct;46(4):371-7.
DOI Direct Link
Erythropoietic protoporphyria.
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem...
12th September, 2009
Department of Dermatology, Hospital Clinic, University of Barcelona, Orphanet J Rare Dis. 2009 Sep 10;4:19.
DOI Direct Link
Novel human pathological mutations. Gene symbol: ALAS2. Disease: sideroblastic anaemia.
BACKGROUND: Sideroblastic anemias are heterogeneous congenital and...
9th September, 2009
Hematologia, Centro Hospitalar Coimbra, EPE/Hospital Maria Pia, Coimbra, Hum Genet. 2009 Aug;126(2):333.
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations.
BACKGROUND: Sideroblastic anemias are heterogeneous congenital and...
5th September, 2009
Division of Hematology/Oncology, Children's Hospital Boston, Harvard Pediatr Blood Cancer. 2009 Sep 3.
DOI Direct Link
Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.
We studied patients with myeloid neoplasm associated with ringed...
21st August, 2009
Department of Hematology Oncology, University of Pavia & Fondazione Blood. 2009 Oct 22;114(17):3538-45. Epub 2009 Aug 19.
DOI Direct Link

View more research publications.

Patents:

Patents logo
US Patent No.Title
7611839 Methods for diagnosing RCC and other solid tumors
6953875 Transgenic zebra fish embryo model for hematopoiesis and lymphoproliferative disorders
6934133 Three terminal magnetic head having a magnetic semiconductor and a tunnel magnetoresistive film and magnetic recording apparatus including the head
6706867 DNA array sequence selection
6603062 Method for producing transgenic plants with modified 5-aminolevulinic acid biosynthesis, method for identifying 5-aminolevulinic acid synthesis effectors

View more patents.

ALAS2 results (if any) from reagent suppliers

Google CSE Logo
ALAS2 proteins and peptides: Cardiovascular > Hypoxia > Hypoxia ...
ALAS2 proteins and peptides. ... Applications (see key) & Reactivity (see key). Image Abreview Publication. ab79941 · ALAS2 protein (His tag). SDS-PAGE ...
http://www.abcam.com/index.html?t=277913&pt=2&c=335&ei=&mu=r...

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ALAS-E (N-20) Antibody sc-32334
Human, ALAS2, 212, Xp11.21, NM_000032, NM_001037967, NM_001037968, NM_001037969 · P22557 · 301300. Mouse, Alas2, 11656, X F3, P08680 ...
http://www.scbt.com/datasheet-32334-alas-e-n-20-antibody.htm...

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Abgent - Cell and Function Antibodies
AT1107a, ALAS2 monoclonal antibody (M01), ELISA,S-ELISA,WB-Ce,WB-Re,WB-Tr, H. AT1108a, ALAS2 monoclonal antibody (M02), ELISA,WB-Ce,WB-Re, H ...
http://www.abgent.com/products/category/cell_function...

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ALAS Antibody / ALAS Antibodies
PRODUCT NAME, CATALOG #, ISOTYPE, EPITOPE, APPLICATIONS, SPECIES. ALAS-E (H-100) Antibody, sc-50529, rabbit IgG, 61-160 (h), WB, IP, IF, ELISA, h > m, r ...
http://www.scbt.com/table-alas.html...

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Protein fragments | Abcam
ALAS2 protein (His tag). SDS-PAGE. Images · ab38128 · ALK protein. WB, Inhib, ELISA. ab54052 · alpha COP I protein. SDS-PAGE. ab54054 · alpha COP I protein
...
http://www.abcam.com/index.html?pageconfig=catalog_proteins&...

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ALAS-E (H-100) Antibody sc-50529
Ratón, Alas2, 11656, X F3, P08680, No Aplicable. Ratón, Alas2, 11656, X F3, P08680, No Aplicable. Información sobre pedidos ...
http://www.scbt.com/es/datasheet-50529-alas-e-h-100-antibody...

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Abcam antibodies and reagents product map
ALAS2 proteins and peptides (1) · AMPD3 antibodies (1) · DYRK3 antibodies (1) · EPB41 antibodies (2) · EPO antibodies (7) · EPO proteins and peptides (5) ...
http://www.abcam.com/index.html?c=253...

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