CHAMP1

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.

Gene data

CHAMP1

Name: chromosome alignment maintaining phosphoprotein 1
Type: protein-coding
Aliases: C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828

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

Wikidata facts

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HomoloGene ID: 18780
exact match: identifiers.org/ncbigene/283489
genomic start: 114314482
genomic end: 114337626
cytogenetic location: 13q34

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Contents

Clinical Significance
References
External links
Further reading

== 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.