CPA6 Antibody

1. Common variants in PRPF31 and CPA6 were associated with worse and better metformin response, respectively. PMID: 29650774
2. these mutations in CPA6 are deleterious and provide further evidence for the involvement of CPA6 mutations in the predisposition for several types of epilepsy. PMID: 25875328
3. Significantly higher levels of DNA methylation are found in the CPA6 promoter in focal epilepsy and febrile seizure patients. PMID: 24290490
4. These results provide further evidence for the involvement of CPA6 mutations in human epilepsy. PMID: 23105115
5. CPA6 mutatins are genetically linked to an autosomal recessive familial form of febrile seizures and temporal lobe epilepsy (TLE), and are associated with sporadic TLE cases. PMID: 21922598
6. Substrate specificity of human carboxypeptidase A6 PMID: 20855895
7. The CPAH gene was interrupted in a patient with DURS carrying a translocation break point in the DURS1 region on chromosome 8q13. PMID: 12454025
8. CPA6 may have a role in the regulation of neuropeptides in the extracellular environment within the olfactory bulb and other parts of the brain PMID: 18178555
9. Thrombin activation of osteopontin (OPN) (resulting in OPN-R) and its subsequent inactivation by thrombin-activatable carboxypeptidase B (generating OPN-L) occurs locally within inflamed joints in rheumatoid arthritis. PMID: 19790060

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HGNC: 17245

OMIM: 609562

KEGG: hsa:57094

STRING: 9606.ENSP00000297770

UniGene: Hs.658850