缺陷的CUBN导致MGA1
中文名称
通路描述
CUBN基因缺陷导致隐性遗传巨幼红细胞贫血1型（RH-MGA1，即芬兰型或Imerslund-Grasbeck综合征，I-GS；MIM:261100）。Grasbeck等人描述的芬兰病例是由CUBN基因缺陷引起的。Cbl（钴胺素，维生素B12）的吸收障碍导致B12依赖性叶酸代谢受损，最终导致胸腺嘧啶合成和DNA复制受损。
英文描述
Defective CUBN causes MGA1 Defects in the CUBN gene cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Finnish type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Finnish cases described by Grasbeck et al. were caused by defects in CUBN (Grasbeck et al. 1960). The resultant malabsorption of Cbl (cobalamin, vitamin B12) leads to impaired B12-dependent folate metabolism and ultimately impaired thymine synthesis and DNA replication.
所含基因
2 个基因