CPAP Chromosome 13
Centrosome assembly and centriole elongation protein
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What This Gene Does
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 (22)
Microcephaly 6
primary
autosomal recessive
Seckel syndrome 4
CENPJ-related disorder
Inborn genetic diseases
Meniere disease
Seckel syndrome 1
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thymoma
Cervical cancer
Seckel syndrome 5
Microcephaly 1
Perisylvian polymicrogyria
Primary microcephaly
Lissencephaly type 3
Moderate intellectual disability
Microcephaly
+2 more conditions
Key Variants
RS113239817
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
RS115628561
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
RS1244476467
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1258929370
Conflicting classifications of pathogenicity
Health Risk
RS138675304
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
RS138732534
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
RS139844197
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
RS140564566
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
RS140927921
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
RS141844033
Conflicting classifications of pathogenicity
Seckel syndrome 4, Microcephaly 6, primary
Health Risk
RS143258862
Conflicting classifications of pathogenicity
Seckel syndrome 4, Microcephaly 6, primary
Health Risk
RS143260721
Conflicting classifications of pathogenicity
Microcephaly 6, primary, autosomal recessive
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS768331750 | Health Risk | Likely pathogenic | — |
| RS786205481 | Health Risk | Likely pathogenic | — |
| RS864321658 | Health Risk | Likely pathogenic | Seckel syndrome 4, Microcephaly 6, primary |
| RS1060499557 | Health Risk | Pathogenic | Seckel syndrome 5, Seckel syndrome 5 |
| RS1131691823 | Health Risk | Pathogenic | Seckel syndrome 4, Seckel syndrome 4 |
| RS1180531129 | Health Risk | Pathogenic | — |
| RS121434311 | Health Risk | Pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS1413289687 | Health Risk | Pathogenic | — |
| RS1441504335 | Health Risk | Pathogenic | — |
| RS1555294652 | Health Risk | Pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS1555299107 | Health Risk | Pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS1566280414 | Health Risk | Pathogenic | — |
| RS1566295297 | Health Risk | Pathogenic | — |
| RS1953942935 | Health Risk | Pathogenic | — |
| RS1953949496 | Health Risk | Pathogenic | — |
| RS1954548327 | Health Risk | Pathogenic | Seckel syndrome 4, Seckel syndrome 4 |
| RS199422202 | Health Risk | Pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS200213585 | Health Risk | Pathogenic | — |
| RS201111299 | Health Risk | Pathogenic | Perisylvian polymicrogyria, Primary microcephaly, Lissencephaly type 3 |
| RS2138557145 | Health Risk | Pathogenic | — |
| RS2138659699 | Health Risk | Pathogenic | — |
| RS2541687729 | Health Risk | Pathogenic | — |
| RS2541694352 | Health Risk | Pathogenic | — |
| RS386352291 | Health Risk | Pathogenic | — |
| RS587783410 | Health Risk | Pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS751929468 | Health Risk | Pathogenic | — |
| RS753229951 | Health Risk | Pathogenic | — |
| RS755299634 | Health Risk | Pathogenic | — |
| RS759188041 | Health Risk | Pathogenic | Perisylvian polymicrogyria, Lissencephaly type 3, Primary microcephaly |
| RS761034946 | Health Risk | Pathogenic | — |
| RS761856922 | Health Risk | Pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS764863211 | Health Risk | Pathogenic | — |
| RS767234515 | Health Risk | Pathogenic | — |
| RS769916634 | Health Risk | Pathogenic | — |
| RS771114416 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS777893196 | Health Risk | Pathogenic | Seckel syndrome 4, Seckel syndrome 4 |
| RS797045447 | Health Risk | Pathogenic | Seckel syndrome 4, Seckel syndrome 4 |
| RS797045448 | Health Risk | Pathogenic | Seckel syndrome 4, Seckel syndrome 4 |
| RS797045449 | Health Risk | Pathogenic | Seckel syndrome 4, Seckel syndrome 4 |
| RS797045452 | Health Risk | Pathogenic | Seckel syndrome 4, Seckel syndrome 4 |
| RS886041674 | Health Risk | Pathogenic | — |
| RS886043932 | Health Risk | Pathogenic | — |
| RS1053431940 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS1283083598 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS138228629 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS1566276461 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS199422203 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS201822162 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS202058504 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly 6, primary, autosomal recessive |
| RS374057641 | Health Risk | Pathogenic/Likely pathogenic | — |