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Protein Coding Gene : Cep57 centrosomal protein 57

Primary Identifier  MGI:1915551 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  74360
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables microtubule binding activity. Involved in protein homooligomerization and spermatid development. Located in centrosome; cytoplasm; and nucleus. Is expressed in midbrain ventricular layer and telencephalon ventricular layer. Human ortholog(s) of this gene implicated in mosaic variegated aneuploidy syndrome 2. Orthologous to human CEP57 (centrosomal protein 57).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality by E15.5. Mice heterozygous for the allele exhibit increased tumor incidence with aneuploidy. Mice homozygous for a hypomorphic allele exhibit abnormal bone ossification, short curly tails, and neonatal lethality. [provided by MGI curators]
  • synonyms:
  • mKIAA0092,
  • RIKEN cDNA 4921510P06 gene,
  • 4921510P06Rik,
  • centrosomal protein 57,
  • MGI:1914656,
  • 3110002L15Rik,
  • MGI:2143073,
  • Cep57,
  • RIKEN cDNA 3110002L15 gene,
  • RIKEN cDNA 4931428M20 gene,
  • MGI:1921610,
  • expressed sequence AI467480,
  • AI467480,
  • Tsp57,
  • 4931428M20Rik

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16 Pathways

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