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The protein encoded by CPA6 belongs to the family of carboxypeptidases, which catalyze the release of C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Additionally we are shipping Carboxypeptidase A6 Proteins (4) and and many more products for this protein.
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Common variants in PRPF31 and CPA6 were associated with worse and better metformin response, respectively.
these mutations in CPA6 are deleterious and provide further evidence for the involvement of CPA6 mutations in the predisposition for several types of epilepsy.
Significantly higher levels of DNA methylation are found in the CPA6 promoter in focal epilepsy and febrile seizure patients.
These results provide further evidence for the involvement of CPA6 mutations in human epilepsy.
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.
Substrate specificity of human carboxypeptidase A6
The CPAH gene was interrupted in a patient with DURS carrying a translocation break point in the DURS1 region on chromosome 8q13.
CPA6 may have a role in the regulation of neuropeptides in the extracellular environment within the olfactory bulb and other parts of the brain
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.
The distribution of Cpa6 suggests a specific role in a limited number of tissues, and it is possible that this role involves an aspect of cell migration.
The protein encoded by this gene belongs to the family of carboxypeptidases, which catalyze the release of C-terminal amino acid, and have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Polymorphic variants and a reciprocal translocation t(6\;8)(q26\;q13) involving this gene, have been associated with Duane retraction syndrome.
, carboxypeptidase B