PSMB8 (NM_148919.4) sequence variants
(JMP, ALDD, LMP7, NKJO, D6S216, PRAAS1, PSMB5i, RING10, D6S216E)

PubMed of the initial paper:

• PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures,
  muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.
  Agarwal AK& al.
• Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8)
  mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
  Arima K & al.

Other links:

• MAP VIEW
• ORPHANET: Orphan disease database