Gene CBS

Also known as

HIP4, cystathionine beta-synthase

Overview

CBS (Cystathionine Beta-Synthase) encodes the enzyme that catalyzes the first step of the transsulfuration pathway, converting homocysteine to cystathionine. This is a critical junction in methionine metabolism that diverts homocysteine away from the methylation cycle toward cysteine and glutathione synthesis.

Severe CBS deficiency causes classical homocystinuria, an autosomal recessive disorder characterized by dramatically elevated homocysteine levels, lens dislocation, skeletal abnormalities, intellectual disability, and increased thrombotic risk. Common CBS polymorphisms may cause milder effects on homocysteine metabolism and have been studied in relation to cardiovascular disease risk.

CBS activity requires pyridoxal phosphate (vitamin B6) as a cofactor, and many patients with CBS deficiency respond to B6 supplementation. Understanding your CBS genetic status can inform nutritional strategies for optimizing homocysteine levels and supporting the transsulfuration pathway for glutathione production.

NutraHacker Raw DNA Analysis Products that include this gene

• Complete Mutation Nutrition Report

Upload raw DNA data to get your very own analysis of gene CBS through your personalized DNA reports.