SHMT2

This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

本基因编码一种依赖吡哆醛磷酸的酶的线粒体形式，该酶催化丝氨酸与四氢叶酸的可逆反应，生成甘氨酸和5,10-亚甲基四氢叶酸。编码的产物主要负责甘氨酸的合成。有研究表明，编码的蛋白质活性是细胞内甘氨酸的主要来源。编码该酶细胞质形式的基因位于第17号染色体上。可变剪接导致多种转录本变异。[由RefSeq提供，2009年10月]