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]. |