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CEP250 centrosomal protein 250

Gene ID: 11190, updated on 28-Oct-2024
Gene type: protein coding
Also known as: CEP2; CNAP1; C-NAP1; CRDHL2

Summary

This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
GeneReviews: Not available
Cone-rod dystrophy and hearing loss 2
MedGen: C5193051OMIM: 618358GeneReviews: Not available
See labs
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available

Genomic context

Location:
20q11.22
Sequence:
Chromosome: 20; NC_000020.11 (35455165..35519280)
Total number of exons:
39

Links

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