Centrosomal protein of 152 kDa

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The CEP152 gene at 15q21.1 codes for the 1710 amino acid pro-peptide to centrosomal protein of 152 kDa. This organises the microtubules of animal cells and has an essential role in giving shape to the cell, polarity, motility and cell division. It acts as a molecular scaffold facilitating the interaction of serine/threonine-protein kinase PLK4 and centromere protein J, It colocalizes with CDK5 regulatory subunit-associated protein 2, WD repeat-containing protein 62 and centrosomal protein of 63 kDa in a discrete ring around the proximal end of the parental centriole.

Dysfunctional variants cause autosomal recessive primary microcephaly (MCPH9, microcephaly 9, OMIM:614852) and Seckel syndrome-5 (OMIM:613823, SCKL5)

Variants are associated with atrioventricular septal defect[1].

References