Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 31
CEP120
Short-rib thoracic dysplasia with or without polydactyly 13
CEP120

References:

1.

Roosing S et al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

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2.

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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3.

Xie Z et al. (2007) Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool.

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4.

Hutchins JR et al. (2010) Systematic analysis of human protein complexes identifies chromosome segregation proteins.

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5.

Mahjoub MR et al. (2010) Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly.

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6.

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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8.

Orphanet article

Orphanet ID 422916 [^]
9.

NCBI article

NCBI 153241 [^]
10.

OMIM.ORG article

Omim 613446 [^]
11.

Wikipedia article

Wikipedia EN (CEP120) [^]
Update: April 29, 2019