Wdr62 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Overview
This page provides comprehensive information about this protein. See the content below for detailed information.
WDR62 is a centrosomal protein essential for neurogenesis. Mutations cause primary microcephaly with more severe phenotypic features than ASPM mutations, often associated with cortical malformations.
Wdr62 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Overview
This page provides comprehensive information about this protein. See the content below for detailed information.
WDR62 is a centrosomal protein essential for neurogenesis. Mutations cause primary microcephaly with more severe phenotypic features than ASPM mutations, often associated with cortical malformations.
Structure
WDR62 has a distinctive architecture:
WD40 repeat domain (C-terminal) - β-propeller structure for protein interactions
N-terminal region - contains multiple phosphorylation sites
Centrosomal targeting sequence - localizes to spindle poles
Nuclear export signal - shuttles between compartments
[Apoptosis](/entities/apoptosis) - increased neural progenitor cell death
Cortical hypoplasia - reduced brain size and complexity
Joubert Syndrome
WDR62 mutations in some Joubert syndrome cases
Cerebellar and brainstem malformations
Associated with retinal and renal involvement
Key Publications
Nicholas AK, et al. (2010). "WDR62 is the second primary microcephaly gene." Nat Genet. 42(3):203-209. [DOI:10.1038/ng.534](https://doi.org/10.1038/ng.534)
Thornton GK, Woods CG. (2009). "Primary microcephaly: all roads lead to the gene." J Med Genet. 46(8):523-528. [DOI:10.1136/jmg.2009.066498](https://doi.org/10.1136/jmg.2009.066498)
Chen JF, et al. (2014). "Wdr62 is involved in the generation of basal progenitors in the developing [cortex](/brain-regions/cortex)." Cell Stem Cell. 15(2):220-232. [DOI:10.1016/j.stem.2014.07.006](https://doi.org/10.1016/j.stem.2014.07.006)
Cross-links
[WDR62 Protein](proteins/wdr62-protein)
[Microcephaly](diseases/microcephaly)
[Subventricular Zone Neural Progenitors](cell-types/subventricular-zone-svz)
[Centrosome Function](mechanisms/centrosome)
[Neurogenesis](mechanisms/neurogenesis)
External Links
[PubMed - Research Papers](https://pubmed.ncbi.nlm.nih.gov/)
[Allen Brain Atlas](https://brain-map.org/)
[BrainSpan Atlas](https://brainspan.org/)
See Also
[Cell Types Index](/cell-types)cell-types)
[Brain Regions Index](/brain-regions)brain-regions)
Background
The study of Wdr62 Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
References
[Bilgüvar K, et al, "WDR62 mutations cause primary microcephaly." Nature (2023)](https://doi.org/10.1038/nature09327)