N33 Rabbit Polyclonal Antibody

This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008], 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.