Normal allele: GG
Known CBS breakdown decreases homocysteine levels and there is an increased risk of sulphur toxicity if too much of it is ingested with food and supplements. There is an increased risk of ammonia detoxification problems.
Research and publications:
18098291 Folate metabolism genes, vegetable intake and renal cancer risk in central Europe
19493349 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
21254359 Folate pathway and nonsyndromic cleft lip and palate.
21533139 Predicting diabetic nephropathy using a multifactorial genetic model.
21957013 Genetic studies of the cystathionine beta-synthase gene and myelomeningocele.
24033266 A systematic approach to assessing the clinical significance of genetic variants.
25939784 Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.