MCPH1 wt Allele

Preferred Label : MCPH1 wt Allele;

NCIt synonyms : Microcephaly, Primary Autosomal Recessive 1 Gene; FLJ12847; BRIT1; BRCT-Repeat Inhibitor of TERT Expression 1 Gene; MCT; Microcephalin 1 wt Allele;

NCIt definition : Human MCPH1 wild-type allele is located in the vicinity of 8p23.1 and is approximately 237 kb in length. This allele, which encodes microcephalin protein, is involved in both brain development and DNA damage checkpoints. Mutation of the gene is associated with primary, autosomal-recessive microcephaly 1.;

NCIt note : There is a report of a chromosomal aberration involving the AGPAT5 gene and the MCPH1 gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AK022909;

Details

Origin ID

C114569;

UMLS CUI

C3890389;

Automatic exact mappings (from CISMeF team)
- Microcephalin 1 [OMIM gene]
- brain injuries [MeSH Descriptor]
- malonyl-CoA-acyl carrier protein transacylase [ORDO Gene]
- medium-chain triglyceride [Artificial nutrition thesaurus concept]
- microcephalin 1 [ORDO Gene]
- mucociliary clearance [GO term]
- solute carrier family 16 member 1 [ORDO Gene]
- tomography, X-ray computed [MeSH Descriptor]
OMIM relation
- Microcephalin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 8p23.1 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Mitosis [NCIt concept]
- Neural Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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