CDK5RAP2 Antibody

1. ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2. PMID: 28883092
2. A frameshift mutation in CDK5RAP2 gene is associated with primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. PMID: 28778786
3. Using homozygosity mapping complemented with whole-exome, gene panel or Sanger sequencing, we identified 12 novel mutations in 3 known MCPH-associated genes - 9 in ASPM, 2 in MCPH1 and 1 in CDK5RAP2. The 2 MCPH1 mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints PMID: 28004384
4. Data suggest that CDK5RAP2 and CEP170 both interact with microtubule nucleation-promoting region of AKAP350A; CEP68 interacts with distal C-terminal region of AKAP350A; AKAP350A spans the bridge between centrioles. (CDK5RAP2 = CDK5 regulatory subunit associated protein 2; CEP170 = centrosomal protein 170kDa; AKAP350A = A kinase (PRKA) anchor protein (yotiao) 9; CEP68 = centrosomal protein 68kDa) PMID: 29054927
5. results suggest that EB1 cooperates with CDK5RAP2 and perhaps other SXIP-containing +TIPs in tracking growing microtubule tips. PMID: 28320860
6. CDK5RAP2 may play a role in primary microcephaly and interacts with components of the Hippo signaling pathway PMID: 28004182
7. Three siblings with isolated agenesis of corpus callosum carry compound heterozygous variants, p.[Gly94Arg];[Asn1232Ser], in CDK5RAP2 gene. PMID: 26197979
8. stabilization of the centrosome-spindle pole interface by the CEP215-HSET complex could promote survival of cancer cells containing supernumerary centrosomes. PMID: 26987684
9. mouse expresses only one form of CDK5RAP2 that is equivalent to the human and rat alternatively spliced variant forms PMID: 26550838
10. These results show that Cep169 targets microtubule tips and regulates stability of microtubules with CDK5RAP2. PMID: 26485573
11. Cep68 degradation allows Cep215 removal from peripheral pericentriolar material (PCM) preventing centriole separation following disengagement, PCNT cleavage mediates Cep215 removal from core of the PCM to inhibit centriole disengagement and duplication PMID: 25503564
12. LRRK1 regulates mitotic spindle orientation downstream of PLK1 through CDK5RAP2-dependent centrosome maturation. PMID: 26192437
13. The CEP215-pericentrin interaction is required for centrosome maturation and subsequent bipolar spindle formation during mitosis. PMID: 24466316
14. DPP4, CDK5RAP2, and CCR6 are risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. PMID: 24782177
15. results reveal a key role of the dynein-dynactin complex in the dynamic recruitment of CDK5RAP2 to centrosomes PMID: 23874654
16. Human expression pattern of CDK5RAP2 is similar to that seen in mice and is in concordance with pathology suggested by neuroimaging studies in humans and mouse PMID: 22806269
17. Sequencing of the coding exons and exon/intron splice junctions of the CDK5RAP2 gene identified homozygosity for the novel nonsense mutation, c.4441C > T (p.Arg1481*), in both affected sons PMID: 23587236
18. We conclude that the common variations we measured in the 4 microcephaly genes, ASPM, MCPH1, CDK5RAP2, and CENPJ, do not affect the risk of Alzheimer disease PMID: 21297427
19. The deletion of the C-terminal structural maintenance of chromosome (SMC) domain and the p35-binding domain in both patient pedigrees 1 and 2 CDK5RAP2 is sufficient for the development of MCPH3-associated primary microcephaly. PMID: 21512315
20. A report of an novel alternatively spliced variant form of hCDK5RAP2, hCDK5RAP2 variant 1 (hCDK5RAP2-V1) which lacks the 237 nucleotide residues of hCDK5RAP2 exon 32. PMID: 21346412
21. CDK5RAP2 may represent a novel mechanism for centrosomal and Golgi localization. PMID: 20466722
22. CEP 215 regulates a dynein-dependent transport of the pericentriolar matrix proteins during the centrosome maturation. PMID: 20139723
23. Mutations in CDK5RAP2 gene is associated with autosomal recessive primary microcephaly PMID: 15793586
24. pattern of molecular evolution seen in CDK5RAP2 appears to parallel, at least approximately, that seen in two other previously identified primary microcephaly genes, microcephalin and ASPM PMID: 16631324
25. Centrosome malfunction due to the CDK5RAP2 mutations may underlie autosomal recessive primary microcephaly. PMID: 17959831
26. Cep215 associates with centrosomes throughout the cell cycle and does not appear to interact with Cep68, rootletin or C-Nap1; data suggest Cep215 functionally interacts with pericentrin PMID: 18042621
27. CDK5RAP2 is required for spindle checkpoint function. PMID: 19282672
28. Results show that CDK5RAP2 targets growing microtubule tips in association with EB1 to regulate microtubule dynamics. PMID: 19553473

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HGNC: 18672

OMIM: 604804

KEGG: hsa:55755

STRING: 9606.ENSP00000343818

UniGene: Hs.269560