Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zentrosomales Protein von 120 kDa

Das CEP120-Gen kodiert ein zentrosomales Protein welches an der Kopplung von Mikrotubuliapperat und Nukleus beteiligt ist. Mutationen sind für autosomal rezessive Erkrankungen wie Joubert-Syndrom 31 und SRTD-Syndrom 13 verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Joubert-Syndrom 31
CEP120
SRTD-Syndrom (Short-rib thoracic dysplasia) 13
CEP120

Referenzen:

1.

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

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2.

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

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3.

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

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4.

Comartin D et. al. (2013) CEP120 and SPICE1 cooperate with CPAP in centriole elongation.

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5.

Lin YN et. al. (2013) CEP120 interacts with CPAP and positively regulates centriole elongation.

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6.

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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7.

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

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Update: 28. März 2018