CHAMP1

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.^[5] CHAMP1 is a key component of a protein complex that has a role in facilitating homology-directed repair of DNA.^[6]

CHAMP1
Identifiers
Aliases	CHAMP1, C13orf8, CAMP, CHAMP, ZNF828, MRD40, chromosome alignment maintaining phosphoprotein 1
External IDs	OMIM: 616327; MGI: 1196398; HomoloGene: 18780; GeneCards: CHAMP1; OMA:CHAMP1 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q34 Start 114,314,482 bp[1] End 114,337,626 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 A1.1|8 6.4 cM Start 13,919,641 bp[2] End 13,931,639 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of ileum secondary oocyte ganglionic eminence epithelium of colon tibialis anterior muscle cardiac muscle tissue of right atrium thymus skin of thigh myocardium of left ventricle stromal cell of endometrium Top expressed in hand zygote oocyte secondary oocyte primary oocyte otolith organ utricle maxillary prominence epiblast primitive streak More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding metal ion binding nucleic acid binding Cellular component cytoplasm chromosome spindle chromosome, centromeric region cytoskeleton condensed chromosome nucleus kinetochore nucleoplasm Flemming body Biological process sister chromatid biorientation protein localization to microtubule attachment of mitotic spindle microtubules to kinetochore protein localization to kinetochore Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 283489 101994 Ensembl ENSG00000198824 ENSMUSG00000047710 UniProt Q96JM3 Q8K327 RefSeq (mRNA) NM_032436 NM_001164144 NM_001164145 NM_181854 NM_001363455 RefSeq (protein) NP_001157616 NP_001157617 NP_115812 NP_862902 NP_001350384 Location (UCSC) Chr 13: 114.31 – 114.34 Mb Chr 8: 13.92 – 13.93 Mb PubMed search [3] [4]
Wikidata
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Clinical Significance

Mutations in the CHAMP1 gene are associated with a neurodevelopmental disorder characterized by intellectual disability and severe speech impairment.^[7][8] This condition, often referred to as CHAMP1-related neurodevelopmental disorder, arises from a pathogenic variant in one of the two copies of the gene.^[9] The majority of cases result from de novo mutations, meaning they are not inherited from the parents.^[10]

Individuals with this disorder typically present with a range of symptoms, including global developmental delay, intellectual disability, and significant speech impairment.^[11][12] Common behavioral issues include features consistent with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD).^[13] Other frequently reported conditions include feeding difficulties, vision problems, seizures, and hypotonia (low muscle tone).^[11]

Diagnosis is confirmed through genetic testing. Management is supportive and tailored to the individual's symptoms, involving physical, occupational, and speech therapies, as well as educational support.^[12]