基因名:
EPS8L2
产品别名:
DFNB106; EPS8R2; EPS8L2; EPS8 like 2; EPS8 like 2; epidermal growth factor receptor kinase substrate 8-like protein 2; EPS8-related protein 2; epidermal growth factor receptor pathway substrate 8-related protein 2; 转醛醇酶/EPS8L2;
背景信息:
Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis.