Mutations within the MTHFR gene results in a form of homocysteinemia that is usually referred to ashyperhomocysteinemia. The MTHFR gene is located on chromosome 1p36.22 and is composed of 12 exons that generate two alternatively spliced mRNAs, each of which encode distinct protein isoforms. There are two distinct pools of THF molecules, the active pool and the decreased pool. The reduced pool consists solely ofN5-methyl-THF (5-methyl-THF) which is also the main form of folate absorbed from the small intestines as well as the main kind circulating within the blood for transport to the varied tissues. All of the opposite THF derivatives constitute the energetic pool.
Two extra genes, MTHFD1L and MTHFD2L encode mitochondrial NADP+-dependent enzymes. The MTHFD1L encoded enzyme is a ten-formyl-THF synthetase and the MTHFD2L encoded enzyme is a 5,10-methylene-THF dehydrogenase. The conversion of 5,10-methylene-THF to 5-methyl-THF is catalyzed by methylene THF reductase (encoded by the MTHFR gene).
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