DGAT1 Rabbit Polyclonal Antibody, 100ul Cell Culture Plates Mutations in this gene are

Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract

also known as hereditary hyperekplexia or congenital stiff-person syndrome

May also be involved in cardiac development

type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI)

DGAT1 Rabbit Polyclonal Antibody, 100ul Cell Culture Plates Mutations in this gene areThis gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases.