该基因编码一种与细胞镁摄取、蛋白质糖基化和胚胎发育等多种生物学功能相关的蛋白质。该蛋白定位于内质网,并作为寡糖基转移酶复合物的一个组成部分,该复合物负责n-连接蛋白糖基化。该基因是一个候选的抑癌基因。该基因纯合子突变与常染色体隐性遗传非综合征性精神发育迟滞-7有关,并与包括转移性胰腺癌、卵巢癌和多形性胶质母细胞瘤在内的几种癌症的增殖和侵袭性有关。[由RefSeq提供,2017年10月]
This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]
基因名: | TUSC3 |
别名: | M33,N33,MRT7,MRT22,MagT2,OST3A,D8S1992,SLC58A2 |
基因ID: | 7991 |
Chromosome: (GRCh37) | 8 Start: 15397596 End: 15624158 Strand: |
信号通路: |