CEP152

Chr 15

centrosomal protein 152

Also known as: MCPH4, MCPH9, SCKL5

NCBI Gene: 22995 ENSG00000103995 UniProt: O94986

The protein localizes to the centrosome and functions in centrosome biogenesis and microtubule organization. Mutations cause primary microcephaly (MCPH4) and Seckel syndrome 5 through autosomal recessive inheritance. The pathogenic mechanism involves disrupted centrosome function leading to abnormal cell division and impaired brain development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly 9, primary, autosomal recessive

UniProtSeckel syndrome 5

Clinical highlights

Gene-disease validity (ClinGen)

microcephaly with or without short stature · ARDefinitivesufficient evidence for diagnostic panels

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

0.82

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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