CUL4B wt Allele

Preferred Label : CUL4B wt Allele;

NCIt synonyms : KIAA0695; Cullin 4B wt Allele; SFM2; DKFZp686F1470; MRXHF2; MRXSC;

NCIt definition : Human CUL4B wild-type allele is located in the vicinity of Xq23 and is approximately 51 kb in length. This allele, which encodes cullin-4B protein, is involved in the mediation of protein ubiquitination. Mutation of the gene is associated with both mental retardation, X-linked, syndromic type 15 and Cabezas syndrome.;

GenBank Accession Number : U58091;

Détails

Origin ID

C93070;

UMLS CUI

C2985421;

OMIM relation
- Cullin 4b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Nucleotide Excision Repair Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Degradation Process [NCIt concept]
- Ubiquitination [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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