菜单 基因医生

该蛋白属于蛋白质的醛脱氢酶家族。这个基因的产物是一种催化视网膜醛合成维甲酸（RA）的酶。维甲酸是维生素A（维甲酸）的活性衍生物，是一种激素信号分子，在发育和成人组织中起作用。类似小鼠基因的研究表明，这种酶和细胞色素cyp26a1同时建立了促进后器官发育和预防脊柱裂的局部胚胎维甲酸水平。四个编码不同亚型的转录变体已被鉴定为该基因。
This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene.