CEP152 Antibody – Rabbit

Function: Regulator of genomic integrity and cellular response to DNA damage acting through ATR-mediated checkpoint signaling. Necessary for centrosome duplication. It functions as a molecular scaffold facilitating the interaction of PLK4 and CENPJ, two molecules involved in centriole formation. Ref.5 Ref.6 Ref.7

Subunit structure: Interacts (via N-terminus) with PLK4. Interacts (via C-terminus) with CENPJ (via-N-terminus). Interacts with CINP. Interacts with CEP63; this interaction recruits CEP152 to centrosomes. Ref.5 Ref.6 Ref.7 Ref.8

Subcellular location: Cytoplasm › cytoskeleton › centrosome. Note: Colocalizes with CEP63 in a discrete ring around the proximal end of the parental centriole. At this site, a cohesive structure is predicted to engage parental centrioles and procentrioles. Ref.5 Ref.7 Ref.8 Ref.9

Involvement in disease: Microcephaly, primary, 9 (MCPH9) [MIM:614852]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9Seckel syndrome 5 (SCKL5) [MIM:613823]: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence caution: The sequence AAH69186.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.The sequence BAA74935.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.