DISEASES

Disease-gene associations mined from literature

Literature associating DNAJC13 and autosomal dominant limb-girdle muscular dystrophy type 1

DNAJC13 [ENSP00000260818]

DnaJ homolog subfamily C member 13; Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates th dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex .

Synonyms:  DNAJC13,  DNAJC13p,  hDNAJC13,  A0A3B3IRM0,  H0Y8Q2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM