SCD (Stearoyl-CoA Desaturase)
Summary¶
Stearoyl-CoA desaturase (SCD) is a key enzyme in fatty acid metabolism that catalyzes the formation of monounsaturated fatty acids (MUFAs), primarily oleic acid and palmitoleic acid, from saturated fatty acids (stearic acid and palmitic acid, respectively). Its activity strongly influences the ratio of 16:1 (palmitoleic) to 18:0 (stearic) fatty acids, and it is a major regulatory target in lipid-related traits.
Regulation and Genetic Associations¶
SCD is highly regulated at the transcriptional level. Notably, the variant rs603424 has been shown to sit in a functional enhancer element that regulates SCD expression, particularly in adipose tissue.
While naive proximity-based variant-to-gene mapping (and some automated pipelines) prioritize the nearby gene PKD2L1 for associations at this locus, tissue-specific eQTL mapping and deep-learning based variant effect prediction with AlphaGenome confirm that this regulatory element strongly modulates SCD expression in adipocytes.