PSMB8 (NM_148919.4) sequence variants
(beta5i, D6S216E, PSMB5i, RING10)

General web sites
LRG	LRG_1328
DNA	NC_000006.12 GRCh38.p13	ENSG00000204264 GRCh38.p13
	NC_000006.11 GRCh37.p13	ENSG00000204264 GRCh37.p13
	NG_028165.1
mRNA	NM_148919.4	ENST00000374882.8
CCDS	CCDS4757.1
Protein	NP_683720.2	ENSP00000364016.3
NCBI Gene	5696
OMIM Gene	177046
OMIM Disease	256040
Nomenclature	HGNC

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