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Biotin, also known as vitamin B7, vitamin H, or coenzyme R, is a water-soluble B-complex vitamin. It is naturally produced in the body and synthesized by gut bacteria or microbiota residing in the intestines. Additionally, biotin can be acquired through specific foods or easily accessible supplements. Biotin deficiency can lead to reduced cell proliferation rates, compromised immune function, and abnormal fetal development. Emerging evidence indicates that biotin also plays a crucial role in gene expression regulation, influencing various aspects of cell biology and fetal development. Studies utilizing DNA microarrays and other gene expression analyses suggest that biotin impacts the transcription of genes related to cytokines and their receptors, oncogenes, glucose metabolism, and cellular biotin homeostasis. Furthermore, research indicates that biotin influences the expression of the asialoglycoprotein receptor and propionyl-CoA carboxylase at the post-transcriptional level. Multiple pathways have been identified through which biotin may exert its effects on gene expression. Biotinidase deficiency is attributed to mutations in the BTD gene, which encodes the biotinidase enzyme. This enzyme plays a crucial role in recycling biotin, making it accessible for various metabolic pathways. Genetic alterations in the BTD gene result in reduced biotinidase activity, leading to impaired biotin recycling.
Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Vitamin B7 (biotin) and see a list of existing studies.
SNP polymorphisms related to the topic Vitamin B7 (biotin):
| rs7640807 | |
| rs13073139 | It is a frequent cause of profound biotinidase deficiency. |
| rs13078881 | It is a frequent cause of profound biotinidase deficiency. |
| rs28934601 | Polymorphism increases the risk of biotin (vitamin B7) deficiency in children. |
| rs34885143 | Mutations causing biotinidase deficiency and biotin deficiency. |
| rs35034250 | |
| rs104893688 | Polymorphism increases the risk of biotin (vitamin B7) deficiency in children. |