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  2. Valine - Wikipedia

    en.wikipedia.org/wiki/Valine

    Valine (symbol Val or V) [4] is an α-amino acid that is used in the biosynthesis of proteins. It contains an α-amino group (which is in the protonated −NH 3 + form under biological conditions), an α-carboxylic acid group (which is in the deprotonated −COO − form under biological conditions), and a side chain isopropyl group, making it a non-polar aliphatic amino acid.

  3. Glycated hemoglobin - Wikipedia

    en.wikipedia.org/wiki/Glycated_hemoglobin

    Once a hemoglobin molecule is glycated, it remains that way. A buildup of glycated hemoglobin within the red cell, therefore, reflects the average level of glucose to which the cell has been exposed during its life-cycle. Measuring glycated hemoglobin assesses the effectiveness of therapy by monitoring long-term serum glucose regulation.

  4. Hypervalinemia - Wikipedia

    en.wikipedia.org/wiki/Hypervalinemia

    Hypervalinemia is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine. [2] [3] It is caused by a deficiency of the enzyme valine transaminase. [4]

  5. Hemoglobin - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin

    Hemoglobin in the blood carries oxygen from the respiratory organs (lungs or gills) to the other tissues of the body, where it releases the oxygen to enable aerobic respiration which powers an animal's metabolism. A healthy human has 12 to 20 grams of hemoglobin in every 100 mL of blood. Hemoglobin is a metalloprotein, a chromoprotein, and ...

  6. Missense mutation - Wikipedia

    en.wikipedia.org/wiki/Missense_mutation

    In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered from the codon GAG to GTG. Thus, the 6th amino acid glutamic acid is substituted by valine—notated as an "E6V" mutation—and the protein is sufficiently altered to cause the sickle-cell disease. [5]

  7. Hemoglobin A - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin_A

    Hemoglobin A (HbA), also known as adult hemoglobin, hemoglobin A1 or α 2 β 2, is the most common human hemoglobin tetramer, accounting for over 97% of the total red blood cell hemoglobin. [1] Hemoglobin is an oxygen-binding protein, found in erythrocytes , which transports oxygen from the lungs to the tissues. [ 2 ]

  8. U.S. approves two sickle cell gene therapies, which doctors ...

    www.aol.com/news/u-approves-two-sickle-cell...

    The disease affects hemoglobin, the protein in red blood cells that carries oxygen. A genetic mutation causes the cells to become sickle or crescent-shaped, which can block blood flow, causing ...

  9. Hemoglobin C - Wikipedia

    en.wikipedia.org/wiki/Hemoglobin_C

    Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th position of the β-globin chain is replaced with a lysine residue due to a point mutation in the HBB gene. [1] People with one copy of the gene for hemoglobin C do not experience symptoms, but can pass the abnormal gene on to their children.