| Entrez Gene ID | 57094 |
|---|---|
| Official Gene Symbol | CPA6 (GeneCards) |
| Full name | carboxypeptidase A6 |
| Location | 8q13.2 |
| Other ids | Vega : OTTHUMG00000164575 MIM : 609562 HGNC : HGNC:17245 Ensembl : ENSG00000165078 |
| Other names | CPAH, ETL5, FEB11 |
| Summary | 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] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11677 | 57094 | CPA6 | 8 | 68805976 | 68805976 | Asymptomatic | HiSeq X Ten |
| 11744 | 57094 | CPA6 | 8 | 68789709 | 68789709 | Asymptomatic | HiSeq X Ten |
| 11914 | 57094 | CPA6 | 8 | 68687570 | 68687570 | Asymptomatic | HiSeq X Ten |
| 12610 | 57094 | CPA6 | 8 | 68657294 | 68657294 | Cockayne syndrome | HiSeq X Ten |
| 26590 | 57094 | CPA6 | 8 | 68509286 | 68509286 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 26623 | 57094 | CPA6 | 8 | 68494161 | 68494161 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |