Also known as C13orf8, CAMP, CHAMP, ZNF828, MRD40, chromosome alignment maintaining phosphoprotein 1
Chromosome alignment-maintaining phosphoprotein 1 (CHAMP1) also known as zinc finger protein 828 (ZNF828) is a protein that in humans is encoded by the CHAMP1 gene. CHAMP1 is a key component of a protein complex that has a role in facilitating homology-directed repair of DNA.
This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017].
via MyGene.info
Chromosome alignment-maintaining phosphoprotein 1 (CHAMP1) also known as zinc finger protein 828 (ZNF828) is a protein that in humans is encoded by the CHAMP1 gene. CHAMP1 is a key component of a protein complex that has a role in facilitating homology-directed repair of DNA.
== Clinical Significance == Mutations in the CHAMP1 gene are associated with a neurodevelopmental disorder characterized by intellectual disability and severe speech impairment. This condition, often referred to as CHAMP1-related neurodevelopmental disorder, arises from a pathogenic variant in one of the two copies of the gene. The majority of cases result from de novo mutations, meaning they are not inherited from the parents.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).