CEP63

Chr 3

centrosomal protein 63

Also known as: SCKL6

NCBI Gene: 80254 ENSG00000182923 UniProt: Q96MT8

CEP63 encodes a centrosomal protein that is required for normal spindle assembly and centriole duplication, and plays a role in DNA damage response. Mutations cause Seckel syndrome 6, characterized by primordial dwarfism and microcephaly, with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variants (pLI near zero), which is consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSeckel syndrome 6

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.26

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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