MTTP Antibody (C-Term) Blocking Peptide

MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]

MTTP: Catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B. Defects in MTTP are the cause of abetalipoproteinemia (ABL). ABL is an autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.

Protein type: Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 4q24

Cellular Component: endoplasmic reticulum; endoplasmic reticulum lumen; receptor complex

Molecular Function: lipid transporter activity; phospholipid transporter activity; protein binding; protein heterodimerization activity

Biological Process: lipid metabolic process; lipoprotein biosynthetic process; phospholipid transport; triacylglycerol transport

Disease: Abdominal Obesity-metabolic Syndrome 1; Abetalipoproteinemia