PSMB8 wt Allele

**Semantic type:** Gene or Genome

**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).

**Synonyms:** - ALDD - D6S216 - D6S216E - JMP - LMP7 - Large Multifunctional Peptidase 7 Gene - Large Multifunctional Protease 7 Gene - NKJO - PSMB5i - Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Peptidase 7) Gene - Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 (Large Multifunctional Protease 7) Gene - Proteasome (Prosome, Macropain) Subunit, Beta Type, 8 wt Allele - Proteasome-Related Gene 7 - RING10 - Y2 - beta5i