NIH R01 · 2024
PROJECT SUMMARY Nonsense or missense mutations of the CHAMP1 gene, which encodes for a zinc-finger protein involved in the maintenance of kinetochore-microtubule attachment during mitosis and regulation of chromosomal segregation, causes a neurodevelopmental syndrome characterized by intellectual disability (ID), ASD-like behaviors, microcephaly, hypotonia, and dysmorphic features. CHAMP1 interacts with POGZ, which encodes for a gene that causes the White-Sutton syndrome, and it is known that the interaction of these two proteins is lost in the presence of mutations. To date, 36 disease rare variants in CHAMP1 have been reported across studies comprising nonsense, missense, and frameshift…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.