CEP44

Chr 4

centrosomal protein 44

Also known as: KIAA1712, PS1TP3

NCBI Gene: 80817 ENSG00000164118 UniProt: Q9C0F1 OMIM: 620217

The CEP44 protein is a centriole-enriched microtubule-binding protein essential for centriole biogenesis and centrosome cohesion, working with other proteins to ensure proper centriole wall formation and centrosome conversion. Mutations cause autosomal recessive microcephalic primordial dwarfism, characterized by severe growth restriction and microcephaly beginning prenatally. The gene shows minimal constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

Enables microtubule binding activity. Involved in centriole replication and centriole-centriole cohesion. Located in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.16

LOEUF

Mechanism· predicted