Methylmalonic acidemia with homocystinuria(甲基丙二酸血症伴合并高胱氨酸尿症(钴胺素传递蛋白缺乏症))

返回

检测编号:NS0320104


基因 TCN2 与疾病

TCN2编码钴胺传递蛋白,将钴胺素(维生素B12)运到全身细胞内。钴胺素传递蛋白的缺乏使得机体缺少钴胺素,影响细胞生长、增殖及细胞能量代谢等。钴胺素对于新的血细胞的生成以及神经系统极为重要。

基因名称基因全名基因位置外显子个数 CDS长度
TCN2 transcobalamin II 22q12.2 9 约2072 bp
基因摘要 This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010].