MOCS1

Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]

钼因子生物合成是一条保守的途径，该途径导致钼的生物活化。编码该基因的蛋白质参与此途径。最初认为该基因可能产生一种双顺反子信使RNA，具有从相邻的开放阅读框产生两种蛋白质（MOCS1A和MOCS1B）的潜力。然而，只有第一个开放阅读框（MOCS1A）被发现能够从假定的双顺反子信使RNA编码蛋白质，而额外的剪接变体很可能产生两个开放阅读框之间的融合。该基因在钼因子缺乏症A型患者中存在缺陷。在16号染色体上已鉴定出一种相关的假基因。[由RefSeq提供，2017年11月]