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. [^]

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

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

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

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

6.	Shaheen R et. al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [^]

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

Update: 28. März 2018