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In chylomicron retention disease, the PCTV vesicles are competent for budding from the ER membrane but are defective for fusion with the cis-golgi body. Sar1B is a GTPase and one of the five proteins of the COPll coatomer. A mutation in the sar1B gene and subsequently the sar1B protein are the common genetic origins of chylomicron retention ...
344 11813 Ensembl ENSG00000234906 ENSMUSG00000002992 UniProt P02655 Q05020 RefSeq (mRNA) NM_000483 NM_001277944 NM_001309795 RefSeq (protein) NP_000474 NP_000474.2 NP_001296728 NP_001264873 NP_001296724 Location (UCSC) Chr 19: 44.95 – 44.95 Mb Chr 7: 19.41 – 19.41 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Protein family Apo-CII nmr structure of human apolipoprotein c-ii in ...
Chylomicron structure ApoA, ApoB, ApoC, ApoE (apolipoproteins); T (triacylglycerol); C (cholesterol); green (phospholipids). Chylomicrons transport lipids absorbed from the intestine to adipose, cardiac, and skeletal muscle tissue, where their triglyceride components are hydrolyzed by the activity of the lipoprotein lipase, allowing the released free fatty acids to be absorbed by the tissues.
Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.
Structure of a chylomicron (the largest lipoprotein). ApoA , ApoB , ApoC , ApoE are apolipoproteins ; green particles are phospholipids ; T is triglyceride ; C is cholesterol ester . A lipoprotein is a biochemical assembly whose primary function is to transport hydrophobic lipid (also known as fat ) molecules in water, as in blood plasma or ...
Apolipoprotein C-III also known as apo-CIII, and apolipoprotein C3, is a protein that in humans is encoded by the APOC3 gene.Apo-CIII is secreted by the liver as well as the small intestine, and is found on triglyceride-rich lipoproteins such as chylomicrons, very low density lipoprotein (VLDL), and remnant cholesterol.
Lipoprotein lipase deficiency (type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein C2, resulting in elevated chylomicrons, the particles that transfer fatty acids from the digestive tract to the liver; Familial apoprotein CII deficiency (type Ib), [17] [18] a condition caused by a lack of lipoprotein lipase ...
This condition is more likely when a mutation in apolipoprotein E (ApoE) is present. ApoE serves as a ligand for the liver receptor for chylomicrons, IDL and VLDL, also known as very-low-density-lipoprotein receptor.