PSMB8 wt Allele

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;

Details

Origin ID

C112076;

UMLS CUI

C3811068;

Automatic exact mappings (from CISMeF team)
- Nakajo-Nishimura syndrome [ICD-11 More detail]
- Proteasome subunit, beta-type, 8 [OMIM gene]
- Proteasome-associated autoinflammatory syndrome 1 [OMIM Phenotype]
- proteasome 20S subunit beta 8 [ORDO Gene]
OMIM relation
- Proteasome subunit, beta-type, 8 [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
- 6p21.3 [NCIt concept]
gene_is_element_in_pathway
- Proteasome Pathway [NCIt concept]
gene_plays_role_in_process
- Antigen Processing [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Proteolysis [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]

Keyword's position in hierarchy(ies) :

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