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FLASH GENE
Symbol CEP63 contributors: mct/npt/pgu - updated : 29-09-2015
HGNC name centrosomal protein 63kDa
HGNC id 25815
ASSOCIATED DISORDERS
corresponding disease(s) SCKL6
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
in invasive bladder tumours
constitutional       loss of function
severely impairs meiotic recombination, leading to profound male infertility
Susceptibility to developmental dyslexia
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Cep63-deficient mice recapitulate Seckel syndrome pathology