TUSC3 Antibody – Rabbit

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]

TUSC3: Magnesium transporter. May be involved in N- glycosylation through its association with N-oligosaccharyl transferase. Defects in TUSC3 are the cause of mental retardation autosomal recessive type 7 (MRT7); also known as mental retardation non-syndromic autosomal recessive 7. 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. Belongs to the OST3/OST6 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 8p22

Cellular Component: endoplasmic reticulum membrane; mitochondrion; integral to plasma membrane; oligosaccharyl transferase complex

Molecular Function: dolichyl-diphosphooligosaccharide-protein glycotransferase activity; magnesium ion transmembrane transporter activity

Biological Process: cellular protein metabolic process; cell redox homeostasis; protein amino acid N-linked glycosylation; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; cognition; magnesium ion transport

Disease: Mental Retardation, Autosomal Recessive 7