GGACT
gamma-glutamylamine cyclotransferase
Summary
The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs967601270 | 13:101,184,467 | C/T | — | uncertain significance |
| rs1172257559 | 13:101,184,472 | G/A | — | uncertain significance |
| rs2549098259 | 13:101,184,512 | T/C | — | uncertain significance |
| rs2088421946 | 13:101,184,709 | C/T | — | uncertain significance |
| rs934050720 | 13:101,184,712 | G/A | — | uncertain significance |
| rs1037607080 | 13:101,184,787 | A/T | — | uncertain significance |
| rs895560590 | 13:101,184,824 | C/T | — | uncertain significance |
| rs9554701 | 13:101,189,087 | T/A | coding sequence variant | — |
| rs9585455 | 13:101,201,352 | A/G | intron variant | — |
| rs837313 | 13:101,205,428 | C/A | — | — |
| rs9518096 | 13:101,223,109 | T/C | intron variant | — |
| rs9554707 | 13:101,239,592 | T/C | upstream gene variant | — |
| rs71439670 | 13:101,240,571 | C/T | regulatory region variant | — |
| rs569496936 | 13:101,241,058 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.