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anti-Human CDK5RAP2 Antikörper:
anti-Mouse (Murine) CDK5RAP2 Antikörper:
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Human Polyclonal CDK5RAP2 Primary Antibody für IP, WB - ABIN152186
Lizarraga, Margossian, Harris, Campagna, Han, Blevins, Mudbhary, Barker, Walsh, Fleming: Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. in Development (Cambridge, England) 2010
Show all 4 Pubmed References
ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2.
A frameshift mutation in CDK5RAP2 gene is associated with primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.
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
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)
results suggest that EB1 cooperates with CDK5RAP2 and perhaps other SXIP-containing +TIPs in tracking growing microtubule tips.
CDK5RAP2 may play a role in primary microcephaly and interacts with components of the Hippo signaling pathway
Three siblings with isolated agenesis of corpus callosum carry compound heterozygous variants, p.[Gly94Arg];[Asn1232Ser], in CDK5RAP2 gene.
stabilization of the centrosome-spindle pole interface by the CEP215-HSET complex could promote survival of cancer cells containing supernumerary centrosomes.
mouse expresses only one form of CDK5RAP2 that is equivalent to the human and rat alternatively spliced variant forms
These results show that Cep169 targets microtubule tips and regulates stability of microtubules with CDK5RAP2.
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
LRRK1 regulates mitotic spindle orientation downstream of PLK1 through CDK5RAP2-dependent centrosome maturation.
The CEP215-pericentrin interaction is required for centrosome maturation and subsequent bipolar spindle formation during mitosis.
DPP4, CDK5RAP2, and CCR6 are risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.
results reveal a key role of the dynein-dynactin complex in the dynamic recruitment of CDK5RAP2 to centrosomes
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
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
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
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.
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.
We highlight that infertility in Cdk5rap2 mutant mice is secondary to a lack of spermatogenic cells in adult mice as a result of an early developmental defect in the germ cells through mitotic delay, prolonged cell cycle, and apoptosis.
this study revealed the presence of previously unknown splice variants of the Cdk5rap2 gene that are at least in part accountable for the lack of microcephaly in the mice.
In Cdk5rap2-depleted neural embryonic stem cells there is an increase in cell death in differentiating cells.
Mouse expression pattern of CDK5RAP2 is similar to that seen in humans and is in concordance with pathology suggested by neuroimaging studies in humans and mouse
This study demonistrated that CDK5RAP2 is a key molecule that mediates functional interaction and is essential for centrosomal targeting of Aurora-A.
These results indicate that CDK5RAP2 is required to maintain centriole engagement and cohesion, thereby restricting centriole replication.
Cdk5rap2 is highly expressed in the neural progenitor pool and its loss results in a depletion of apical progenitors and increased cell-cycle exit leading to premature neuronal differentiation
The an mutation is a genomic inversion of exon 4 of Cdk5rap2, resulting in an in-frame deletion of exon 4 from the mRNA. Cdk5rap2(an/an) neuronal precursors exit the cell cycle prematurely and many undergo apoptosis.
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants.
CDK5 regulatory subunit-associated protein 2
, EGF-like-domain, multiple 5
, CDK5 regulatory subunit associated protein 2
, CDK5 regulatory subunit-associated protein 2-like
, CDK5 activator-binding protein C48
, centrosomal protein 215 kDa