Gene: CEP63

Alternate names for this Gene: SCKL6

Gene Summary: This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.2

Description of this Gene: centrosomal protein 63

Type of Gene: protein-coding

rs10935120 in CEP63 gene and Body Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

rs1266747910 in CEP63 gene and Dysmorphic features PMID 25348405 2015 UniProt: a hub for protein information.

PMID 26400686 2015 Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

PMID 21406398 2011 Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.

PMID 21983783 2011 A primary microcephaly protein complex forms a ring around parental centrioles.

PMID 23936128 2013 Cep63 and cep152 cooperate to ensure centriole duplication.

PMID 26158450 2015 CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombination.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 15793586 2005 A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

PMID 20598275 2010 Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

PMID 19829375 2009 Asymmetric centrosome inheritance maintains neural progenitors in the neocortex.

PMID 16829198 2006 What primary microcephaly can tell us about brain growth.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

rs10935120 in CEP63 gene and Height PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

rs746387482 in CEP63 gene and SECKEL SYNDROME 6 PMID 21983783 2011 A primary microcephaly protein complex forms a ring around parental centrioles.