PPIP5K2 Antibodies, cDNA Clones Research Reagents

PPIP5K2 (Diphosphoinositol Pentakisphosphate Kinase 2) is a protein coding gene located on human chromosome 5q21.1. PPIP5K2 is also known as VIP2, IP7K2, CFAP160, DFNB100, and HISPPD1. The human PPIP5K2 gene encodes a 140407 Da protein containing 1243 amino acids. The PPIP5K2 protein is ubiquitously expressed in bone marrow, colon and other tissues. Among its related pathways are Inositol phosphate metabolism (REACTOME) and Inositol phosphate metabolism (KEGG). PPIP5K2 is related to acid phosphatase activity and inositol hexakisphosphate 1-kinase activity. PPIP5K1 is an important paralog of PPIP5K2 gene. PPIP5K2 is associated with some diseases, including Deafness, Autosomal Recessive 100 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb.

PPIP5K2 Antibody (1)

    PPIP5K2 cDNA Clone (1)

    NM_001345875.1

    克隆载体 cDNA 产品

    PPIP5K2 分子背景

    The diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2) plays critical roles in cell signaling and bioenergetic homeostasis. PPIP5K2 is remarkable for the reversible nature of its kinase activity, its unique ligand-stimulated ATPase activity, and the substrate traveling between two ligand-binding sites. PPIP5K2 mediates cellular phosphate homestasis, since its kinase activity acts as a sensor of extracellular inorganic phosphate levels, dysfunctional PPIP5K2 activity in the inner ear results in hair cell loss and deafness. Mutations in PPIP5K2 gene are associated with hearing loss in human and mouse.

    PPIP5K2 参考文献

    • Yousaf R, et al. (2018) Mutations in diphosphoinositol-pentakisphosphate kinase ppip5k2 are associated with hearing loss in human and mouse. PLoS Genet 14 (3): e1007297.
    • Wang H, et al. (2014) Synthetic inositol phosphate analogs reveal that ppip5k2 has a surface-mounted substrate capture site that is a target for drug discovery. Chem Biol 21 (5): 689-699.
    • An Y, et al. (2019) Dynamics of substrate processing by ppip5k2, a versatile catalytic machine. Structure 27 (6): 1022-1028.e1022.

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