缺陷的ST3GAL3导致MCT12和EIEE15
中文名称
通路描述
缺陷的ST3GAL3导致MCT12和EIEE15。CMP-N-乙酰神经氨酸β-1,4-半乳糖α-2,3-唾液转移酶（ST3GAL3）介导唾液酸从CMP-唾液酸转移到含半乳糖的糖蛋白，并在蛋白质上形成唾液酸Lewis a表位，这对于获得和/或维持更高的认知功能所必需。ST3GAL3的一些缺陷导致智力低下、常染色体隐性12（MRT12; MIM:611090），这是一种以一般智力功能低下和适应性行为受损为特征的疾病（Najmabadi et al. 2007, Hu et al. 2011）。ST3GAL3的另一个缺陷可导致早期婴儿癫痫性脑病-15（EIEE15; MIM:615006），导致严重的智力低下（Edvardson et al. 2012）。
英文描述
Defective ST3GAL3 causes MCT12 and EIEE15 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (ST3GAL3) mediates the transfer of sialic acid from CMP-sialic acid to galactose-containing glycoproteins and forms the sialyl Lewis a epitope on proteins which are required for attaining and/or maintaining higher cognitive functions. Some defects in ST3GAL3 result in mental retardation, autosomal recessive 12 (MRT12; MIM:611090), a disorder characterised by below average general intellectual function and impaired adaptive behaviour (Najmabadi et al. 2007, Hu et al. 2011). Another defect of ST3GAL3 can cause early infantile epileptic encephalopathy-15 (EIEE15: MIM:615006), resulting in severe mental retardation (Edvardson et al. 2012).
所含基因
7 个基因