| Entrez Gene ID | 5019 |
|---|---|
| Official Gene Symbol | OXCT1 (GeneCards) |
| Full name | 3-oxoacid CoA-transferase 1 |
| Location | 5p13.1 |
| Other ids | Vega : OTTHUMG00000094783 MIM : 601424 HGNC : HGNC:8527 Ensembl : ENSG00000083720 |
| Other names | OXCT, SCOT |
| Summary | This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29771 | 5019 | OXCT1 | 5 | 41850175 | 41850175 | Autism Spectrum Disorders | NextSeq500 |