SHMT1基因编码的功能和结构描述

该基因编码丝氨酸羟甲基转移酶的胞浆形式，丝氨酸羟甲基转移酶是一种含磷酸吡哆醛的酶，催化丝氨酸和四氢叶酸可逆地转化为甘氨酸和5，10-亚甲基四氢叶酸。这个反应提供了一个碳单位，用于在细胞质中合成蛋氨酸、胸苷酸和嘌呤该基因位于17号染色体的Smith-Magenis综合征区域内。该基因的一个假基因位于1号染色体的短臂上。选择性剪接导致多个转录变体。

This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants.