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WDR62 is proposed to play a role in cerebral cortical development. Additionally we are shipping and many more products for this protein.
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Human Polyclonal WDR62 Primary Antibody for IP, WB - ABIN262255
Bogoyevitch, Yeap, Qu, Ngoei, Yip, Zhao, Heng, Ng: WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression. in Journal of cell science 2013
Data show that CUL4B (show CUL4B Antibodies) variants are associated with a wide range of cerebral malformations and suggest an important role in brain through its interaction with WDR62, a protein in which variants were identified in patients with cerebral malformations.
Genetic factors contribute to modify the severity of the WDR62 phenotype.
WDR62 controls neurogenesis through JNK (show MAPK8 Antibodies) signaling in rat model.
Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation
WDR62 may be a novel prognostic marker and a potential chemotherapy target for gastric cancer.
A homozygous deletion mutation c.1143delA was detected in exon 9 of WDR62 gene, in all affected individuals with primary microcephaly in a Pakistani family, which resulted in frameshift and protein truncation (p.H381PfsX48).
Data indicate that WDR62 dimerization is required for JNK2 (show MAPK9 Antibodies) and MKK7beta1 recruitment.
homozygous missense mutation in WDR62, p.E400K, was found in both boys and segregated with the condition in this family. WDR62 is one of seven genes responsible for autosomal recessive primary microcephaly
Homozygous mutations in WDR62 cause autosomal recessive primary microcephaly in families linked to the MCPH2 locus. This gene encodes a centrosomal as well as nuclear protein.
study reports using whole-exome sequencing to identify compound heterozygous mutations in the WD repeat domain 62 (WDR62) gene as the cause of recurrent polymicrogyria in a sibling pair
Wdr62 interacts with Aurora A (show AURKA Antibodies) to control mitotic progression, and loss of these interactions leads to mitotic delay and cell death of NPCs, which could be a potential cause of human microcephaly.
A key role for WDR62 in metaphase spindle organization, required for normal mitotic progression.
In mice and humans, WDR62 transcripts and protein are enriched in neural progenitors within the ventricular and subventricular zones.
This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and mental retardation. Alternative splicing results in multiple transcript variants.
WD repeat-containing protein 62
, WD repeat domain 62
, WD repeat domain 62-like
, WD repeat-containing protein 62-like
, microcephaly, primary autosomal recessive 2