BAIT

DNAJB6

DJ4, DnaJ, HHDJ1, HSJ-2, HSJ2, LGMD1D, LGMD1E, MRJ, MSJ-1, tcag7.555
DnaJ (Hsp40) homolog, subfamily B, member 6
Homo sapiens
PREY

HSPB8

Cryac, Hsp22
heat shock protein B8
GO Process (0)
GO Function (2)
GO Component (5)

Gene Ontology Molecular Function

Gene Ontology Cellular Component

Rattus norvegicus

Co-localization

Interaction inferred from two proteins that co-localize in the cell by indirect immunofluorescence only when in addition, if one gene is deleted, the other protein becomes mis-localized. Also includes co-dependent association of proteins with promoter DNA in chromatin immunoprecipitation experiments.

Publication

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Raheem O, Penttilae S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B

Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to chromosome 7q36 over a decade ago, but its genetic cause has remained elusive. Here we studied nine LGMD-affected families from Finland, the United States and Italy and identified four dominant missense mutations leading to p.Phe93Leu or p.Phe89Ile changes in the ubiquitously expressed co-chaperone DNAJB6. Functional testing in vivo showed that the ... [more]

Nat. Genet. Apr. 01, 2012; 44(4);450-5, S1-2 [Pubmed: 22366786]

Throughput

  • Low Throughput

Additional Notes

  • PLA

Curated By

  • BioGRID