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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 (show KIFC1 ELISA Kits) 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 (show PCMT1 ELISA Kits)) preventing centriole separation following disengagement, PCNT (show PCNT ELISA Kits) cleavage mediates Cep215 removal from core of the PCM (show PCMT1 ELISA Kits) to inhibit centriole disengagement and duplication
LRRK1 regulates mitotic spindle orientation downstream of PLK1 (show PLK1 ELISA Kits) through CDK5RAP2-dependent centrosome maturation.
The CEP215-pericentrin (show PCNT ELISA Kits) 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 (show DCTN1 ELISA Kits) complex in the dynamic recruitment of CDK5RAP2 to centrosomes
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 (show AURKA ELISA Kits).
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