Anticorps MPPED2 (NQ-A35): sc-134391

MPPED2 Antibody (NQ-A35) is an IgM mouse monoclonal MPPED2 antibody (also designated MPPED2 antibody) that detects the MPPED2 protein of mouse, rat and human origin by WB, IP and ELISA. MPPED2 Antibody (NQ-A35) is available as the non-conjugated anti-MPPED2 antibody. MPPED2 (Metallophosphoesterase domain-containing protein 2), also known as C11orf8, FAM1B or 239FB, is a 294 amino acid protein. Expressed primarily in fetal brain tissue, MPPED2 is encoded by a gene that maps to chromosome 11. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double stranded DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and thalassemia are caused by HBB gene mutations, while Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

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Anticorps MPPED2 (NQ-A35) Références:

1. Le trouble de la délétion terminale 11q: une étude prospective de 110 cas.  |  Grossfeld, PD., et al. 2004. Am J Med Genet A. 129A: 51-61. PMID: 15266616
2. Séquence et analyse de l'ADN du chromosome 11 humain, y compris l'identification de nouveaux gènes.  |  Taylor, TD., et al. 2006. Nature. 440: 497-500. PMID: 16554811
3. Canalisations cardiaques médiées par le canal KCNQ1 K+.  |  Loussouarn, G., et al. 2006. Methods Mol Biol. 337: 167-83. PMID: 16929947
4. Le saut de l'exon 1 dans le gène KCNQ1 provoque le syndrome de Jervell et Lange-Nielsen.  |  Zehelein, J., et al. 2006. J Biol Chem. 281: 35397-403. PMID: 16987820
5. La bêta-thalassémie et la drépanocytose comme paradigmes de l'hypercoagulabilité.  |  Ataga, KI., et al. 2007. Br J Haematol. 139: 3-13. PMID: 17854302
6. Un gène de la région WAGR entre PAX-6 et FSHB exprimé dans le cerveau fœtal.  |  Schwartz, F., et al. 1994. Hum Genet. 94: 658-64. PMID: 7527372
7. Séquence ADNc, organisation génomique et conservation évolutive d'un nouveau gène de la région WAGR.  |  Schwartz, F., et al. 1995. Genomics. 29: 526-32. PMID: 8666403
8. Le gène 239AB sur le chromosome 22: un nouveau membre d'une ancienne famille de gènes.  |  Schwartz, F. and Ota, T. 1997. Gene. 194: 57-62. PMID: 9266672