CETN1

Chr 18

centrin 1

Also known as: CEN1, CETN

NCBI Gene: 1068 ENSG00000177143 UniProt: Q12798 OMIM: 603187

The protein encoded by CETN1 localizes to the centrosome and plays a fundamental role in microtubule-organizing center structure and function, including determination of centrosome position and segregation during the cell cycle. Mutations in CETN1 cause autosomal recessive primary ciliary dyskinesia, a disorder affecting respiratory cilia function and sperm motility. The gene shows relatively low constraint to loss-of-function variation.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jan 2015]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)