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Beschreibung

Centrosomal protein of 152 kDa (UniProt O94986, also known as Cep152) is encoded by the CEP152 (also known as KIAA0912) gene (Gene ID 22995) in human. The mammalian Asl (Asterless) ortholog Cep152 is a centrosomal protein (CEP) that plays an important role in centriole duplication and centriole-to-centrosome conversion. The centrosome is the main microtubule-organizing center essential spindle formation and chromosome segregation during mitosis. Centrosomes are composed of two orthogonally arranged centrioles surrounded by pericentriolar material (PCM). Centriole duplication begins by assembling a procentriole in G1/S phase, where centrosomal scaffolds Cep152 and Cep192 (Spd-2 ortholog) mediate the recruitment of polo kinase Plk4 to centrosomes. This is a key event that triggers the entire duplication process. New centrioles assemble perpendicularly to pre-existing ones in G1/S phase and elongate throughout S and G2 phase. The conversion of fully elongated daughter centrioles into centrosomes during mitotic progression requires sequential loading of Cep135, Cep295 (Ana1 analog) and Cep152 onto daughter centrioles.Cep152 is also an important regulator of genomic integrity and cellular response to DNA damage. Overexpression of CEP152 can drive amplification of centrioles. CEP152 gene mutations are identified among individuals with Seckel syndrome, a heterogeneous autosomal recessive disorder characterized by a proportionate short stature, severe microcephaly and mental retardation, and a typical 'bird-head' facial appearance. Cep152 impairment in Seckel patients-derived cells leads to accumulation of genomic defects as a result of replicative stress through enhanced activation of ATM signaling and increased H2AX phosphorylation.