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centrosomal protein 63 OKDB#: 5436
 Symbols: CEP63 Species: human
 Synonyms: SCKL6  Locus: 3q22.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI 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. [provided by RefSeq, Jul 2008]
General function
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Cellular localization
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Ovarian function
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Expression regulated by
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Ovarian localization Oocyte
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Follicle stages
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Phenotypes
Mutations 1 mutations

Species: human
Mutation name:
type: naturally occurring
fertility: fertile
Comment: A primary microcephaly protein complex forms a ring around parental centrioles. Sir JH et al. (2011) Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial reduction in prenatal human brain growth without alteration of the cerebral architecture and is caused by biallelic mutations in genes coding for a subset of centrosomal proteins. Although at least three of these proteins have been implicated in centrosome duplication, the nature of the centrosome dysfunction that underlies the neurodevelopmental defect in MCPH is unclear. Here we report a homozygous MCPH-causing mutation in human CEP63. CEP63 forms a complex with another MCPH protein, CEP152, a conserved centrosome duplication factor. Together, these two proteins are essential for maintaining normal centrosome numbers in cells. Using super-resolution microscopy, we found that CEP63 and CEP152 co-localize in a discrete ring around the proximal end of the parental centriole, a pattern specifically disrupted in CEP63-deficient cells derived from patients with MCPH. This work suggests that the CEP152-CEP63 ring-like structure ensures normal neurodevelopment and that its impairment particularly affects human cerebral cortex growth.//////////////////

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Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Dec. 26, 2016, 9:41 a.m. by: system   email:
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last update: Dec. 26, 2016, 9:43 a.m. by: hsueh    email:



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