Gene: CHAMP1

Alternate names for this Gene: C13orf8|CAMP|CHAMP|MRD40|ZNF828

Gene Summary: 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.

Gene is located in Chromosome: 13

Location in Chromosome : 13q34

Description of this Gene: chromosome alignment maintaining phosphoprotein 1

Type of Gene: protein-coding

rs1555379911 in CHAMP1 gene and Dysmorphic features PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 27148580 2016 De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

PMID 26340335 2015 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

PMID 26751395 2016 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

rs797044962 in CHAMP1 gene and Multiple congenital anomalies PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

PMID 27148580 2016 De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

PMID 26340335 2015 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26751395 2016 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

rs1555379911 in CHAMP1 gene and Muscle hypotonia PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

PMID 26340335 2015 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26751395 2016 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

PMID 27148580 2016 De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.