DISEASES

Disease-gene associations mined from literature

Literature associating DNAJB2 and autosomal dominant limb-girdle muscular dystrophy type 1

DNAJB2 [ENSP00000338019]

DnaJ homolog subfamily B member 2; Functions as a co-chaperone, regulating the substrate binding and activating the ATPase activity of chaperones of the HSP70/heat shock protein 70 family . In parallel, also contributes to the ubiquitin-dependent proteasomal degradation of misfolded proteins . Thereby, may regulate the aggregation and promote the functional recovery of misfolded proteins like HTT, MC4R, PRKN, RHO and SOD1 and be crucial for many biological processes (PubMed:12754272, PubMed:20889486, PubMed:21719532, PubMed:22396390, PubMed:24023695). Isoform 1 which is localized to the endoplasmic reticulum membranes may specifically function in ER-associated protein degradation of misfolded proteins . ECO:0000269|PubMed:15936278, ECO:0000269|PubMed:20889486, ECO:0000269|PubMed:21625540, ECO:0000269|PubMed:21719532, ECO:0000269|PubMed:22219199, ECO:0000269|PubMed:22396390,

Synonyms:  DNAJB2,  DNAJB2p,  hDNAJB2,  C9J1G2,  C9JRD2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM