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Protein Coding Gene : Cep63 centrosomal protein 63

Primary Identifier  MGI:2158560 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  28135
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable molecular adaptor activity. Involved in centriole replication. Acts upstream of or within several processes, including centrosome duplication; meiosis I; and negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator. Located in centriole and centrosome. Is expressed in olfactory epithelium and vomeronasal organ. Used to study Seckel syndrome. Human ortholog(s) of this gene implicated in Seckel syndrome 6. Orthologous to human CEP63 (centrosomal protein 63).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth defects, microcephaly, thin cerebral cortex, mitotic defects and cell death in neural progenitors, decreased oocyte number, small testis, and severely impaired spermatogenesis and meiotic recombination leading to male infertility. [provided by MGI curators]
  • synonyms:
  • DNA segment, Chr 9, MRC UK Mouse Genome Centre 48 expressed,
  • MGI:1330278,
  • D9Mgc48e,
  • Cep63,
  • DNA segment, Chr 9, MRC UK Mouse Genome Centre 41,
  • MGI:1330303,
  • CD20R,
  • AL450317.13gm1,
  • centrosomal protein 63,
  • AL450317.13, gene model 1,
  • expressed sequence AW107703,
  • AW107703,
  • MGI:2143291,
  • D9Mgc41,
  • ET2

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Canonical gene --> Exons in specific strains

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