CNTLN

Chr 9

centlein

Also known as: C9orf101, C9orf39, bA340N12.1

NCBI Gene: 54875 ENSG00000044459 UniProt: Q9NXG0

The CNTLN protein is required for centrosome cohesion and recruitment of CEP68 to centrosomes, functioning in centriole-centriole cohesion and protein localization. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay, typically presenting in infancy with severe intellectual disability and growth retardation. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, UniProt

Enables protein domain specific binding activity; protein kinase binding activity; and protein-macromolecule adaptor activity. Involved in centriole-centriole cohesion. Located in centriole; centrosome; and cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.19

LOEUF

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Mechanism

Some data sources returned errors (1)