DNAJC6 Antibody

1. DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese population PMID: 27687717
2. DNAJC6 mutations are associated with early-onset Parkinson's disease. PMID: 26528954
3. DNAJC6 is up-regulated in hepatocellular carcinoma tissues and up-regulation of DNAJC6 expression predicts poor outcome in patients with HCC PMID: 25446072
4. Missense mutations in DNAJC6 does not play a major role in PD in the Chinese population. PMID: 24126164
5. we did not detect any heterozygous or homozygous c.801-2A>G mutation in DNAJC6 in a cohort of Parkinson disease patients from southern Spain. PMID: 24220513
6. This review presented that DNAJC6 in recessive forms of juvenile parkinsonism. PMID: 24262182
7. Our findings further establish DNAJC6 as a juvenile parkinsonism gene, and expand the spectrums of the parkinsonism phenotype and DNAJC6 mutation PMID: 23211418
8. study reports a homozygous mutation in DNAJC6 in two patients with autosomal-recessive juvenile Parkinsonism; the mutation was associated with abnormal transcripts and marked reduced DNAJC6 mRNA level PMID: 22563501
9. The DNAJC6 gene encodes auxilin-1, a protein required for clathrin-dependent recycling of synaptic vesicles in neurons that is possibly at the origin of the mental retardation and epilepsy phenotype PMID: 22647716
10. there are two auxilins with overlapping functions; they not only facilitate the uncoating of clathrin-coated vesicles but also prevent the formation of nonproductive clathrin cages in the cytosol PMID: 18489706

Show More

Hide All

HGNC: 15469

OMIM: 608375

KEGG: hsa:9829

STRING: 9606.ENSP00000378735

UniGene: Hs.647643