OXCT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human OXCT1 wild-type allele is located in the vicinity of 5p13.1 and is approximately 141 kb in length. This allele, which encodes succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial protein, is involved in ketone body metabolism. Loss of function mutations in the gene are associated with succinyl-CoA:3-oxoacid-CoA transferase deficiency (SCOTD).

**Synonyms:** - 3-Oxoacid CoA-Transferase 1 wt Allele - OXCT - SCOT