RBBP8 wt Allele

Preferred Label : RBBP8 wt Allele;

NCIt synonyms : CTIP; RIM; Retinoblastoma Binding Protein 8 wt Allele; Seckel Syndrome 2 Gene; SCKL2; SAE2; JWDS; COM1;

NCIt definition : Human RBBP8 wild-type allele is located in the vicinity of 18q11.2 and is approximately 93 kb in length. This allele, which encodes retinoblastoma binding protein 8, plays a role in the modulation of both the cell cycle and cellular proliferation and may be involved in tumor suppression. Missense mutations in the gene are associated with pancreatic carcinoma.;

GenBank Accession Number : AF043431;

Details

Origin ID

C73441;

UMLS CUI

C2347743;

OMIM relation
- Retinoblastoma-binding protein 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Checkpoint [NCIt concept]
- DNA Repair [NCIt concept]
- Homologous Recombination [NCIt concept]
- Hydrolysis [NCIt concept]
- Recombination Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients