DNAJC12 Antibody

1. Molecular diagnostics for DNAJC12 variants are thus mandatory in all patients in which deficiencies of PAH and BH4 are genetically excluded. PMID: 29174366
2. DNAJC12 mutation is not a risk factor of Parkinson's disease in Chinese Han population. PMID: 29801756
3. The results of this study suggest that DNAJC12 mutations (absent in 500 early-onset patients with Parkinson's disease) rarely cause dopa-responsive nonprogressive parkinsonism in adulthood. PMID: 28892570
4. We report biallelic mutations of DNAJC12 in six affected individuals from four families with hyperphenylalaninemia and dopamine and serotonin deficiencies not caused by mutations in phenylalanine hydroxylase or any known tetrahydrobiopterin metabolism genes. PMID: 28132689
5. High expression of DNAJC12 correlates with poor prognosis for rectal cancer. PMID: 25805104
6. the endogenous DNAJC12 and Hsc70 proteins interact in LNCaP cells. PMID: 24122553
7. JDP1 is a estrogen target gene and that its expression might be used as a marker of the estrogen transactivation activity PMID: 16391838

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HGNC: 28908

OMIM: 606060

KEGG: hsa:56521

STRING: 9606.ENSP00000225171

UniGene: Hs.260720