Centrosomal protein of 120 kDa
The CEP120 gene encodes a centrosomal protein that is involved in coupling of microtubuli and nucleus. Mutations cause autosomal recessive Joubert syndrome 31 and Short-rib thoracic dysplasia with or without polydactyly 13.
Genetests:
Related Diseases:
References:
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Roosing S et al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
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Shaheen R et al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.
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Xie Z et al. (2007) Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.
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Hutchins JR et al. (2010) Systematic analysis of human protein complexes identifies chromosome segregation proteins.
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Mahjoub MR et al. (2010) Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.
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Comartin D et al. (2013) CEP120 and SPICE1 cooperate with CPAP in centriole elongation.
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7. |
Lin YN et al. (2013) CEP120 interacts with CPAP and positively regulates centriole elongation.
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Orphanet article
Orphanet ID 422916
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9. |
NCBI article
NCBI 153241
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OMIM.ORG article
Omim 613446
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11. |
Wikipedia article
Wikipedia EN (CEP120)
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Update: Aug. 14, 2020