CPA6 Chromosome 8
Carboxypeptidase A6
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What This Gene Does
The gene encodes a member of the peptidase M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which catalyzes the release of large hydrophobic C-terminal amino acids. This enzyme has functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Mutations in this gene may be linked to epilepsy and febrile seizures, and a translocation t(6;8)(q26;q13) involving this gene has been associated with Duane retraction syndrome. [provided by RefSeq, May 2016]
Gene Info
Gene Group
M14 carboxypeptidases
Locus Type
gene with protein product
Location
8q13.2
Ensembl
ENSG00000165078
Associated Conditions (13)
Febrile seizures
familial
11
Intellectual disability
Familial temporal lobe epilepsy 5
CPA6-related disorder
Epilepsy
Global developmental delay
Self-limited epilepsy with centrotemporal spikes
7 conditions
Adrenocortical carcinoma
hereditary
Lung cancer
Key Variants
RS114402678
Conflicting classifications of pathogenicity
Febrile seizures, familial, 11
Health Risk
RS138279913
Conflicting classifications of pathogenicity
Febrile seizures, familial, 11
Health Risk
RS139145929
Conflicting classifications of pathogenicity
Epilepsy, Febrile seizures, familial
Health Risk
RS139178030
Conflicting classifications of pathogenicity
Febrile seizures, familial, 11
Health Risk
RS143107403
Conflicting classifications of pathogenicity
Familial temporal lobe epilepsy 5, Febrile seizures, familial
Health Risk
RS143321447
Conflicting classifications of pathogenicity
Familial temporal lobe epilepsy 5, Febrile seizures, familial
Health Risk
RS147046973
Conflicting classifications of pathogenicity
Febrile seizures, familial, 11
Health Risk
RS147067921
Conflicting classifications of pathogenicity
Febrile seizures, familial, 11
Health Risk
RS183899632
Conflicting classifications of pathogenicity
Febrile seizures, familial, 11
Health Risk
RS201265791
Conflicting classifications of pathogenicity
Febrile seizures, familial, 11
Health Risk
RS201643526
Conflicting classifications of pathogenicity
Familial temporal lobe epilepsy 5, Febrile seizures, familial
Health Risk
RS35993949
Conflicting classifications of pathogenicity
Familial temporal lobe epilepsy 5, Global developmental delay, Self-limited epilepsy with centrotemporal spikes
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114402678 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS138279913 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS139145929 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, Febrile seizures, familial |
| RS139178030 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS143107403 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 5, Febrile seizures, familial |
| RS143321447 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 5, Febrile seizures, familial |
| RS147046973 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS147067921 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS183899632 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS201265791 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS201643526 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 5, Febrile seizures, familial |
| RS35993949 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 5, Global developmental delay, Self-limited epilepsy with centrotemporal spikes |
| RS368736137 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 5, Febrile seizures, familial |
| RS372964579 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS61738009 | Health Risk | Conflicting classifications of pathogenicity | Familial temporal lobe epilepsy 5, Global developmental delay, Self-limited epilepsy with centrotemporal spikes |
| RS752233230 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS778807405 | Health Risk | Conflicting classifications of pathogenicity | Febrile seizures, familial, 11 |
| RS773734224 | Health Risk | Likely pathogenic | — |