TUSC3 Peptide - N-Terminal Region Blocking Peptide

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]

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