GCAT
glycine C-acetyltransferase
Summary
The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs990870215 | 22:38,203,981 | C/T | — | uncertain significance |
| rs768248986 | 22:38,203,982 | C/T | — | uncertain significance |
| rs710187 | 22:38,204,089 | C/A | missense variant | — |
| rs754752577 | 22:38,204,153 | T/C | — | uncertain significance |
| rs757891717 | 22:38,204,168 | G/A | — | uncertain significance |
| rs1374716239 | 22:38,205,968 | T/C | — | uncertain significance |
| rs1179286117 | 22:38,205,990 | G/T | — | uncertain significance |
| rs1224030555 | 22:38,206,013 | A/T | — | uncertain significance |
| rs149481919 | 22:38,206,037 | T/G | — | uncertain significance |
| rs780828969 | 22:38,206,120 | T/A | — | uncertain significance |
| rs372574599 | 22:38,206,121 | T/C | — | uncertain significance |
| rs12484901 | 22:38,207,419 | T/G | downstream gene variant | — |
| rs1362140868 | 22:38,208,967 | G/T | — | uncertain significance |
| rs2518299889 | 22:38,209,515 | C/T | — | uncertain significance |
| rs755016091 | 22:38,209,539 | C/T | — | uncertain significance |
| rs773756902 | 22:38,209,540 | G/A | — | uncertain significance |
| rs765485148 | 22:38,209,554 | C/T | — | uncertain significance |
| rs758537417 | 22:38,209,564 | G/T | — | uncertain significance |
| rs745626193 | 22:38,209,578 | G/A | — | uncertain significance |
| rs779625361 | 22:38,209,583 | G/A | — | uncertain significance |
| rs568423076 | 22:38,209,587 | G/A | — | uncertain significance |
| rs200164269 | 22:38,211,189 | C/G | — | uncertain significance |
| rs757973790 | 22:38,211,260 | C/A | — | uncertain significance |
| rs1488786493 | 22:38,211,268 | T/A | — | uncertain significance |
| rs2517697379 | 22:38,211,460 | T/C | — | uncertain significance |
| rs373717609 | 22:38,211,472 | A/C | — | uncertain significance |
| rs745812821 | 22:38,211,483 | G/T | — | uncertain significance |
| rs778468489 | 22:38,211,672 | G/T | — | uncertain significance |
| rs142256511 | 22:38,211,679 | C/T | — | uncertain significance |
| rs772912290 | 22:38,211,712 | G/A | — | uncertain significance |
| rs368426560 | 22:38,211,726 | C/G | — | uncertain significance |
| rs1043427584 | 22:38,211,757 | C/G | — | uncertain significance |
| rs140792968 | 22:38,211,762 | G/A | — | uncertain significance |
| rs369346663 | 22:38,211,786 | G/T | — | uncertain significance |
| rs760991465 | 22:38,211,814 | T/G | — | uncertain significance |
| rs376539000 | 22:38,212,290 | G/A | — | uncertain significance |
| rs113961840 | 22:38,212,302 | G/A | — | uncertain significance |
| rs1181962355 | 22:38,212,327 | A/T | — | uncertain significance |
| rs762546090 | 22:38,212,625 | G/A | — | uncertain significance |
| rs772113575 | 22:38,212,672 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.