A functional mutation of the Apoc-2 protein leads to Hyperlipoproteinemia. This disorder is characterized by increased...

A functional mutation of the Apoc-2 protein leads to Hyperlipoproteinemia. This disorder is characterized by increased lipoproteins(eg. chylomicrons) in the blood. Explain as to how a functional mutation of Apoc 2 leads to this disorder.

Expert Solution

Apoc 2 mutation lead hyperlipoproteinemia is a disease related to faulty lipid metabolism.

Apoc 2 is a cofactor for enzyme lipoprotein lipase. This enzyme is responsible for hydrolysis of triglyceride present in chylomicrons

Lipoprotein lipase is also responsible for uptake of remnants of chylomicrons.

Function of Apo c 2

Apo c 2 interacts with N and C terminal residues of lipoprotein lipase. C terminal of enzyme is responsible for substrate specificity and has a preference for triacylglyceride lipoprotein over cholestrol lipoproteins. The C terminal also plays a pivotal role in binding to LDL receptor.and hence lipid uptake

The active site of enzyme contains Serine, aspartate and histidine. They all are found in internal hydrophobic region of the enzyme which is blocked by a lid region. Once the enzyme binds to Apo c-2 and lipid the substrate becomes available to active site for lipolysis.Apo c 2 interaction with lipoprotein lipase helps in movement of the lid.

. If there will be no functionlal Apo c -2 then lipid will not reach to active site (hydrophobic groove) which remains covered by the lid region. It will adversely affect the lipolysis (lipid digestion) hence lipoprotein concentration in blood will increase.

gladiator answered 1 year ago

Mutation of EGFR or Ras protein often leads to cancer. For EGFR mutated cancer, antibodies have...

Mutation of EGFR or Ras protein often leads to cancer. For EGFR mutated cancer, antibodies have been developed to inhibit EGFR signaling. However, no effective treatment has been developed yet. Why it might be difficult to develop specific antibodies against Ras?

Which error prone enzyme leads to increased mutation rates in RNA viruses? DNA dependent DNA polymerase...

Which error prone enzyme leads to increased mutation rates in RNA viruses? DNA dependent DNA polymerase RNA dependent RNA polymerase DNA dependent RNA polymerase RNA dependent DNA polymerase Antigenic drift permits viruses to evade which host defense? Innate Adaptive Interferon All of the above None of the above Antigenic drift can lead to vaccine resistance? Correct Incorrect Is antigenic drift a normal evolutionary process for viruses? Yes No

1. Gillespie syndrome (GS) is a rare genetic disorder. The disorder is characterized by having part...

1. Gillespie syndrome (GS) is a rare genetic disorder. The disorder is characterized by having part of the iris missing, ataxia, and, in most cases, intellectual disability. It is termed as a heterogenous disorder because it can be inherited either through an autosomal dominant pattern or through an autosomal recessive pattern. Two parents are heterozygous for GS. A. Assuming that the condition is following an autosomal dominant pattern, what are the ratios or percentages of the genotypes AND phenotypes for...

A genetic deficiency of C3 leads to a type of immunodeficiency characterized by reccurent and severe...

A genetic deficiency of C3 leads to a type of immunodeficiency characterized by reccurent and severe infections. Explain why?

________ is a condition characterized by high blood pressure and protein in the urine of a...

________ is a condition characterized by high blood pressure and protein in the urine of a pregnant woman. . Preeclampsia b. Malignant renal hypertension syndrome c. Gestational diabetes d. Teratogenic hypertension e. Pregnancy-induced blood pressure crisis

1.A scientist is studying a human disorder that may be attributable to a mutation in the...

1.A scientist is studying a human disorder that may be attributable to a mutation in the mitochondrial DNA. Based on what evidence the scientist believes this A. Specific genetic mutation is observed B. A rare parasitic disease is associated with his disorder C. Maternal rather than Mendelian inheritance pattern is observed D. The ATP production is affected 2.Eukaryotic and bacterial DNA replication share many features, but eukaryotic DNA replication is more complex. What features of eukaryotic DNA replication are not...

Try-Sachs is a disease characterized by progressive neurologic degeneration, and is caused by a recessive mutation....

Try-Sachs is a disease characterized by progressive neurologic degeneration, and is caused by a recessive mutation. In a certain population, the rate of Try-Sachs is 1 in 4000 births. What is the chance of being a carrier in the population? Name three common features of plasmid vectors and what can be accomplished by each. Indicate the features that are absolutely required and why (one clear sentence about why).

Describe the effect of a mutation in the gene that encodes for the C3 protein of...

Describe the effect of a mutation in the gene that encodes for the C3 protein of the complement pathway.

Protein Z is a protein which is phosphorylated at Ser-120. The functional role of this phosphorylation...

Protein Z is a protein which is phosphorylated at Ser-120. The functional role of this phosphorylation site in protein Z was assessed by site-directed mutagenesis. Mutation of Ser-120 to Asp resulted in a protein that is unable to function, while mutation to Ala resulted in a protein with increased ability to function. Discuss a structural basis for these observations.

Functional assays vs. protein density: what happens to each if protein is denatured

Question