Preferred Label : PSMB8 wt Allele;
NCIt synonyms : PSMB5i; JMP; D6S216E; Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 wt Allele; Proteasome-Related Gene 7; Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Protease
7) Gene; Y2; Large Multifunctional Protease 7 Gene; NKJO; Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Peptidase
7) Gene; beta5i; RING10; D6S216; LMP7; Large Multifunctional Peptidase 7 Gene; ALDD;
NCIt definition : Human PSMB8 wild-type allele is located in the vicinity of 6p21.3 and is approximately
4 kb in length. This allele, which encodes proteasome subunit beta type-8 protein,
is involved in both antigen processing and protein catabolism. Mutation of the gene
is associated with Nakajo syndrome and chronic atypical neutrophilic dermatosis with
lipodystrophy and elevated temperature syndrome (CANDLE syndrome).;
GenBank Accession Number : NM_148919;
Origin ID : C112076;
UMLS CUI : C3811068;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_found_in_organism
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
