CCDC102B

Chr 18

coiled-coil domain containing 102B

Also known as: ACY1L, AN, C18orf14, HsT1731

NCBI Gene: 79839 ENSG00000150636 UniProt: Q68D86 OMIM: 621147

The protein maintains centrosome cohesion by forming fibers at the proximal ends of centrioles during interphase and dissociates during mitosis to allow centrosome separation. Mutations cause autosomal recessive retinal dystrophy and Bardet-Biedl syndrome, both ciliopathies affecting the retina and other organ systems. The gene shows tolerance to loss-of-function variation, consistent with recessive inheritance patterns.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein serine/threonine kinase binding activity. Involved in centriole-centriole cohesion. Located in centriole. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: TimeoutError: The operation was aborted due to timeout