" /> PSMB8 wt Allele - CISMeF





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;

Détails


Vous pouvez consulter :


Nous contacter.
30/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.