Genetic Disorder: Argininosuccinic Aciduria
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Official full name of the gene responsible for the disorder: |
Mutations of the Argininosuccinate lyase (ASL) gene is what leads to Argininosuccinic Aciduria disorder. The mutations occur from a lack of deficiency from enzymes. |
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Official Gene Symbol: |
ASL |
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GenBank Accession Number: |
Entrez Gene: 435 |
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Coding sequence: |
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CDS length: |
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Amino acid sequence: |
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Amino acid length of protein: |
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Function of the normal/non-mutated protein: |
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Mutations implicated in causing the disorder: |
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Impact of mutations on the structure and/or functioning of the protein: |
References:
In: Biology
You have joined a research lab that is testing new vaccines for a new strain of the influenza A virus (IAV). The lab's prior studies have shown that when C57BL/6 laboratory mice are given non-pathogenic bacteria that have been engineered to express a 16 amino acid peptide, after about a month the mice produce IgG antibodies that effectively neutralize IAV. Your project is to test serum samples from healthy adult humans who were given these bacteria 6 weeks ago as part of a pilot clinical trial. You find that you can clearly detect IgG antibodies against IAV from about a third of the samples, but cannot detect IAV-specific antibodies from the remainder of the samples. Which of the following is the most likely characteristic shared by individuals who produced a detectable antibody response?
Group of answer choices
They have a genetic polymorphism that causes their T cells to produce comparatively high amounts of IL-2
They express MHC class II allotypes that bind efficiently to the 16 amino acid peptide expressed by the bacteria
They are people who also have pollen allergies
They express a self protein that contains an amino acid sequence identical to the 16 amino acid peptide expressed by the bacteria
They all have genetic polymorphisms in genes for complement proteins that result in inefficient clearance of bacteria by the membrane attack complex (MAC)
In: Biology
5.
a. In a Lineweaver-Burk plot, the y-intercept of the line of best fit is equal to _____ and the x-intercept of the line of best fit is equal to _____:
1) 1/Vmax ; –1/Km 4) –1/Km ; Vmax
2) 1/Km ; 1/Vmax 5) Vmax ; Km
3) 1/Vmax ; –Km
b. All of the following statements are true about the relationships between [S], Km, Vo, and Vmax EXCEPT:
1) As [S] increases, Vo gets closer to Vmax
2) Vmax occurs when the enzyme is saturated with substrate
3) Km is the [S] at which Vo = Vmax/2
4) Vo is closest to Vmax when [S] is less than Km
c. When a protein needs to be degraded by the proteasome, it is covalently attached to another protein called _______. The final enzyme in the process that attaches these two proteins to one another is called _______.
1) Ubiquitin; ubiquitin ligase
2) Ubiquitin-activating enzyme; ubiquitin carrier protein
3) Ubiquitin carrier protein; ubiquitin-activating enzyme
4) Proteasome; ubiquitin ligase
5) None of the above
d. If an enzyme has a Vmax of 60 nM/sec, what is the Vo if the substrate is present at a concentration equal to 3Km?
1) 12 nM/sec 4) 180 nM/sec
2) 45 nM/sec 5) Cannot be determined from information given
3) 60 nM/sec
e. The pH at which a protein is usually least soluble is equal to
1) 1
2) 7
3) The pH at which the protein charge is most negative
4) The isoelectric point (pI) of the protein
5) pKa of the main chain –COOH group
In: Chemistry
The chemical process called _____ produces ___ ATP and supplies energy for muscle contraction for _____.
a. Creatine phosphate, 4, 15 seconds
b. Kreb's cycle (aerobic respiration), 36, hours
c. Glycolysis, 2, 30-60 seconds
d. Creatine phosphate, 1, 15 seconds
e. All of the above except A
In: Anatomy and Physiology
which of the following are likely to act as lewis acids? BF3, NH4+, NH3, CH3+, CH4, H2O, H3O+
In: Chemistry
Write the formulas of the conjugate bases of the following Brønsted-Lowry acids.
HCl
(CH_3)_2NH_2+
H_2SO_4
HS-
In: Chemistry
38.Role of liver in metabolism of fatty acids.
-biochemistry
(please more explanation Im medicine student)
In: Biology
compare the values of the enthalpy of neutralization for the three acids( H3CCOH, Na2S2O3, HCl). explain any similarities and/or differences
In: Chemistry
Why are carboxylic acids, ketones and esters suitable compounds for analysis by gas chromatography-mass spectrometry (GCMS)
In: Chemistry
Acyltransferase in plants introduces fatty acids into glycerolipids determines the degree of unsaturation of the membrane of lipids. explain why
In: Biology