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.
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).