Recombinant Human Dipeptidyl aminopeptidase-like protein 6 (DPP6), partial

1. A novel missense mutation (c.1578G>C/p.Q526H) of DPP6 was identified and co-segregated with affected patients in a family with suspicious idiopathic ventricular fibrillation. PMID: 29474731
2. These data suggest that the proband's autism may be due to the inheritance of disruptions in both DPP6 and LRRC4C, and may highlight the importance of the netrin G family and potassium channel interacting molecules in neurodevelopmental disorders. PMID: 27759917
3. we expanded our knowledge of familial IVF linked to the DPP6 gene and discuss its (extended) clinical characteristics. In addition, its relationship with the Purkinje network is further explored. PMID: 26681609
4. This first familial case provides evidence for association between DPP6 haploinsufficiency and Gilles de la Tourette syndrome. PMID: 25129042
5. the cysteine-rich domain of DPP6 plays an important role in protein folding of DPP6 that is required for transport of DPP6/Kv4.2 complexes out of the ER PMID: 25190807
6. DPP6 is critical for synaptic integration and excitation. PMID: 24677629
7. Two DPP6 de novo deletions and one missense mutation in familial microcephalic patients were identified. PMID: 23832105
8. WT PrP(C), in a DPP6-dependent manner, modulated Kv4.2 channel properties, causing an increase in peak amplitude PMID: 24225951
9. Findings of this study indicate that an altered response of Kv4/DPP6 to long-term neuroleptic administration is involved in neuroleptic-induced TD. PMID: 21826085
10. DPP6-mediated Purkinje fibers early-repolarization syndrome might be a novel molecular paradigm for some forms of idiopathic ventricular fibrillation. PMID: 23532596
11. These results, inflated by the limited sample size determined by the rarity of this condition, suggest a possible role of this gene in the susceptibility to PrMS, at least in Southern Europeans. PMID: 23069673
12. Antibodies to DPPX are associated with a protracted encephalitis characterized by central nervous system hyperexcitability. PMID: 23225603
13. Results showed that DPP6, SPHKAP and ID4 were down regulated in acute myeloid leukemia (AML) patients. PMID: 22479372
14. There was no evidence of association of dipeptidyl-peptidase 6 alleles with amyotrophic lateral sclerosis. Our negative results agree with those recently reported in additional Polish and Italian cohorts. PMID: 19525032
15. KV4.2 channel fast inactivation induced by DPP10a or DPP6a is mediated by a common N-terminal inactivation motif via a pore-blocking mechanism. PMID: 19901547
16. a genome-wide association study of amyotrophic lateral sclerosis identified the DPP6 locus as a candidate for more in-depth studies PMID: 20685689
17. This study indicated that mutations in dpp6 genes are unlikely to be a common cause of ALS in the French and French Canadian populations. PMID: 20001489
18. DPP6 expression seems to be critical for the expression of a high-frequency electrophysiological phenotype in cerebellar granule cells by increasing leak conductance, A-type current levels and kinetics, and Na(+) current amplitude. PMID: 20573902
19. The rs10260404 polymorphism is not associated with an increased risk of sporadic amyotrophic lateral sclerosis in Chinese patients. PMID: 20137488
20. DPPX is an essential component of the native cardiac I(to) channel complex in human heart PMID: 15890703
21. The emerging diversity of DPPX splice variants, differing only in the N-terminus of the protein, opens up intriguing possibilities for the modulation of Kv4 channels. PMID: 16764835
22. The strongest association for ALS was a variant in the gene encoding DPP6. PMID: 18057069
23. Study identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis in different populations of European ancestry, with an overall P value of 5.04 x 10(-8.) PMID: 18084291
24. biophysical and biochemical methods indicate that I(SA) channels carry four subunits each of Kv4.2 and DPP6. PMID: 18364354
25. demonstrated a 20-fold increase in DPP6 mRNA levels in the myocardium of familial idiopathic ventricular fibrillation carriers as compared to controls PMID: 19285295
26. Genetic variation in DPP6, which is located in intron 3 and expressed predominantly in the nervous system, may be a risk factor for susceptibility to progressive spinal muscular atrophy. PMID: 19332697
27. REVIEW: role in health and disease PMID: 19676137
28. Analysis of the differential expression of two distinct forms of mRNA for the cow and rat orthologs. Names the variants S and L. PMID: 1729689

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HGNC: 3010

OMIM: 126141

KEGG: hsa:1804

STRING: 9606.ENSP00000367001

UniGene: Hs.490684