CHAMP1 wt Allele

Preferred Label : CHAMP1 wt Allele;

NCIt synonyms : ZNF828; C13orf8; MRD40; CHAMP; CAMP; Chromosome 13 Open Reading Frame 8 Gene; NEDHILD; Chromosome Alignment Maintaining Phosphoprotein 1 wt Allele; KIAA1802;

NCIt definition : Human CHAMP1 wild-type allele is located in the vicinity of 13q34 and is approximately 23 kb in length. This allele, which encodes chromosome alignment-maintaining phosphoprotein 1, plays a role in chromosome alignment during metaphase. Mutation of the gene is associated with neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features (formerly autosomal dominant mental retardation 40; MRD40).;

NCI Metathesaurus CUI : CL1799328;

GenBank Accession Number : AK074894;

Details

Origin ID

C190806;

UMLS CUI

C5780775;

OMIM relation
- Chromosome alignment-maintaining phosphoprotein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q34 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Chromosome Condensation [NCIt concept]
- Microtubule Process [NCIt concept]
- Mitotic Sister Chromatid Cohesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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