Recombinant Human DnaJ homolog subfamily C member 13 (DNAJC13), partial

1. There is a possibility that specific DNAJC13 variants may play a minor role in PD susceptibility. PMID: 27236598
2. Mutations in exon 24 of DNAJC13 are not a common cause of Parkinson or Lewy body disease among Caucasian populations. PMID: 26278106
3. DNAJC13 c.2564A>G (p.(N855S)) was identified in two patients with essential tremor. PMID: 25118025
4. These results further highlight the critical role for phosphatidylinositol 3-phosphate in the RME-8-mediated organizational control of various endosomal activities, including retrograde transport. PMID: 26134565
5. Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility PMID: 25393719
6. Re-expression of miR-193b in breast cancer cell lines decreased DNAJC13 (HPS40) and RAB22A expression, providing a mechanism by which mir193-b acts as a tumor suppressor. PMID: 25550792
7. PD associated with a DNAJC13 p.N855S parkinsonism mutation presents as late-onset, often slowly progressive, usually dopamine-responsive typical Parkinsonism. PMID: 25186792
8. Data propose that the interaction between RME-8 and the WASH complex provides a means to coordinate the activity of the WASH complex with the membrane-tubulating function of the sorting. PMID: 24643499
9. a pathogenic mutation in DNAJC13, a component of the endosomal recycling system, helps to emphasize the role of endosomal recycling rather than endolysosomal protein degradation in the biology of late-onset Parkinson disease. PMID: 24218364
10. Missense mutations in DNAJC13 does not play a major role in PD in the Chinese population. PMID: 24126164
11. Found DNAJC13 A2057S variant is probably a rare cause of Tourette syndrome/chronic tic phenotype in Chinese Han patients. PMID: 22507240
12. RME-8 functions in intracellular trafficking and provides the first evidence of a functional role for a DnaJ domain-bearing co-chaperone on endosomes PMID: 16179350
13. hRME is primarily involved in membrane trafficking through early endosomes, but not through degradative organelles, such as multivesicular bodies and late endosomes. PMID: 18256511
14. These data implicate RME-8 in sorting decisions influencing EGFR at the level of endosomes and point to RME-8 as a potential regulatory target in ErbB2-positive breast cancers. PMID: 18307993

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HGNC: 30343

OMIM: 168600

KEGG: hsa:23317

STRING: 9606.ENSP00000260818

UniGene: Hs.12707