CPAP centrosome assembly and centriole elongation protein
Gene ID: 55835, updated on 3-Nov-2024Gene type: protein coding
Also known as: LAP; LIP1; BM032; CENPJ; MCPH6; SASS4; SCKL4; Sas-4; CENP-J
- See all available tests in GTR for this gene
- Go to complete Gene record for CPAP
- Go to Variation Viewer for CPAP variants
Summary
This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Microcephaly 6, primary, autosomal recessive | not available |
| Seckel syndrome 4 | not available |
Genomic context
- Location:
- 13q12.12-q12.13
- Sequence:
- Chromosome: 13; NC_000013.11 (24882279..24934000, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CPAP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CENPJ @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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