disease:Defects in TUSC3 are the cause of mental retardation non-syndromic autosomal recessive type 7 (MRT7) [MIM:611093]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.,function:May be involved in N-glycosylation through its association with N-oligosaccharyl transferase.,similarity:Belongs to the OST3/OST6 family.,subunit:Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B.,tissue specificity:Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas.,
展开内容