CPAP

centrosome assembly and centriole elongation protein

2 disorders 1 untyped 1 causative 13q12.12-q12.13 gene with protein product

HGNC:17272 Monarch NCBI Gene 55835 ENSG00000151849 UniProt Q9HC77 OMIM 609279

Previous symbols: CENPJ, MCPH6. Aliases: LAP, LIP1, BM032, SASS4, SCKL4, Sas-4.

KB entries label this CURIE CENPJ; HGNC's current symbol is CPAP.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Seckel syndrome	causative	mechanism: CENPJ-associated centriole and mitotic failure; Centrosome-dependent neural progenitor division impairment subtype: SCKL4 scoped to subtype: SCKL4
Autosomal Recessive Primary Microcephaly	untyped Biallelic Pathogenic Variant	mechanism: Centrosome, Spindle, and Kinetochore Dysfunction; Heterogeneous Biallelic MCPH Gene Dysfunction subtype: MCPH6

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
microcephaly 6 with or without short stature MONDO:0700054	AR	Definitive 2022-05-21	no dismech entry

Mechanism modules · computed from kb/

neural_progenitor_centrosome_spindle_dysfunction via Autosomal Recessive Primary Microcephaly

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.