PIGP Antibodies, cDNA Clones Research Reagents

PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P, also known as DCRC; DSRC; DEE55; DSCR5; PIG-P; DCRC-S; EIEE55), located on 21q22.13, is a Protein Coding gene. The PIGP gene encodes a subunit of the enzyme that catalyzes the first step of glycophosphatidylinositol (GPI) anchor biosynthesis. The gene produces a 18089 Da protein composed of 158 amino acids. It may be involved in the pathophysiology of the tongue malformation observed in Down syndrome. Diseases such as Epileptic Encephalopathy, Early Infantile, 55, and Early Infantile Epileptic Encephalopathy are associated with PIGP.

PIGP Antibody (1)

    PIGP cDNA Clone (13)

    NM_153681.2

    クローニングベクター cDNA 製品

    In lentiviral vector

    PIGP qPCR Primer (1)

    ほかの人気製品

    PIGP の背景知識

    PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P) is a Protein Coding gene. The PIGP gene, located on 21q22.13, is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, and frog. This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serve to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family.

    PIGP の参考文献

    • Shao M, et al. (2009) Down syndrome critical region protein 5 regulates membrane localization of wnt receptors, dishevelled stability and convergent extension in vertebrate embryos. Development 136 (12): 2121-2131.
    • Johnstone DL, et al. (2017) Compound heterozygous mutations in the gene pigp are associated with early infantile epileptic encephalopathy. Hum Mol Genet 26 (9): 1706-1715.
    • Ferrando-Miguel R, et al. (2004) Protein levels of genes encoded on chromosome 21 in fetal down syndrome brain (part v): Overexpression of phosphatidyl-inositol-glycan class p protein (dscr5). Amino Acids 26 (3): 255-261.

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