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While this is the most common mutation, the symptoms are less severe, and life expectancy is, for the most part, unaffected. [21] Type II MHb mutation where the NADH cytochrome b5 reductase enzyme is deficient in various tissues besides RBCs. [22]
Also, vitamin C can occasionally reduce cyanosis associated with chronic methemoglobinemia, and may be helpful in settings in which methylene blue is unavailable or contraindicated (e.g., in an individual with G6PD deficiency). [22] Diaphorase (cytochrome b5 reductase) normally contributes only a small percentage of the red blood cell's ...
The principal biological role of cytochrome b 5 is reduction of methemoglobin, so cytochrome b 5 deficiency can also result in elevated methemoglobin levels and/or methemoglobinemia, similarly to deficiency of cytochrome b 5 reductase (methemoglobin reductase). [1]
The structure of cytochrome b5 reductase, the enzyme that converts methemoglobin to hemoglobin. [1]Methemoglobin (British: methaemoglobin, shortened MetHb) (pronounced "met-hemoglobin") is a hemoglobin in the form of metalloprotein, in which the iron in the heme group is in the Fe 3+ state, not the Fe 2+ of normal hemoglobin.
EC 1.6.2.2 cytochrome-b 5 reductase. NADH + H + + 2 ferricytochrome b 5 → NAD + + 2 ferrocytochrome b 5. EC 1.10.2.1 L-ascorbate—cytochrome-b 5 reductase. L-ascorbate + ferricytochrome b 5 → monodehydroascorbate + ferrocytochrome b 5. EC 1.14.18.2 CMP-N-acetylneuraminate monooxygenase. CMP-N-acetylneuraminate + 2 ferrocytochrome b 5 + O 2 ...
UN: Estimate of life expectancy for various ages in 2023; Locations Life expectancy for population in general Life expectancy for male Life expectancy for female Sex gap; at birth bonus 0→15 at 15 bonus 15→65 at 65 bonus 65→80 at 80 at birth at 15 at 65 at 80 at birth at 15 at 65 at 80 at birth at 15 at 65 at 80 Hong Kong: 85.51: 0.21: 70 ...
Mutations in the CYB5R3 gene cause methemoglobinemia types I and II. This is a rare autosomal recessive disease due to a deficiency of isoform of NADH-cytochrome b5 reductase. [13] Many mutations of this gene and the subsequent disease manifestation have been described. [14] The disease manifests as the accumulation of oxidized Fe+3 in humans. [10]
109672 Ensembl ENSG00000166347 ENSMUSG00000024646 UniProt P00167 P56395 RefSeq (mRNA) NM_001190807 NM_001914 NM_148923 NM_025797 NM_001348159 RefSeq (protein) NP_001177736 NP_001905 NP_683725 NP_080073 NP_001335088 Location (UCSC) Chr 18: 74.25 – 74.29 Mb Chr 18: 84.86 – 84.9 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Cytochrome b5, form A (gene name CYB5A), is a human ...