NIP7 polyclonal antibody

Ribosomes, the organelles that catalyze protein synthesis, are composed of a small subunit (40S) and a large subunit (60S) that consist of over 80 distinct ribosomal proteins. Mammalian ribosomal proteins are encoded by multigene families that contain processed pseudogenes and one functional intron-containing gene within their coding regions. Nip7 is a nucleolar protein involved in ribosome biogenesis, specifically 27S pre-rRNA processing and 60S ribosome subunit assembly in Saccharomyces cerevisiae. NIP7 is a conserved protein among eukaryotes, including human, mouse, rat and pig that is essential for cell growth. In humans, NIP7 interacts with the Shwachman-Bodian-Diamond syndrome (SBDS) protein, which mediates accurate gene expression essential for proper brain, skeletal, and blood cell development. Mutations in the SBDS gene results in an autosomal disorder (SDS) characterized by pleiotropic phenotypes including pancreatic, skeletal and bone marrow deficiencies and predisposition to hematological dysfunctions.