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Genetics & counseling march 3rd, 2009 | hugo w moser, m. pills that work like viagra D. viagra jelly for sale in uk Ann b moser, b. A. Steven j steinberg, ph. extenze pills like viagra D.
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Identification of the abcd1 gene genetic linkage with glucose-6-phosphate dehydrogenase (g6pd) pointed the x-ald locus to the extremity of the long arm of the x-chromosome, xq28.
In 1993, the x-ald gene (abcd1) was identified using positional cloning strategies. viagra for sale perth w a The abcd1 gene is approximately 20 kb long and contains ten exons.
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Aldp belongs to the atp-binding cassette (abc) superfamily of transmembrane transporter proteins. The protein consists of 745 amino acids and contains a membrane domain with six transmembrane segments in the amino-half and an atp-binding domain in the carboxy-half of the protein. Immunocytochemical studies demonstrated that aldp is a peroxisomal membrane protein, which is in agreement with the observed biochemical abnormality in x-ald patients (deficient peroxisomal beta-oxidation of saturated very long-chain fatty acids (vlcfa). Mutations have been found in all x-ald patients thoroughly examined. Complementation studies in fibroblasts derived from x-ald patients demonstrated that expression of normal abcd1 gene in patient cells restores vlcfa metabolism.
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Furthermore, stable expression of aldp in x-ald fibroblasts corrects vlcfa levels to normal levels.
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The function of aldp and its role in relation to either vlcfa metabolism was recently unveiled. Aldp is a transporter of vlcfa-coa esters across the peroxisomal membrane.
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A deficiency in aldp impairs vlcfa transport and two consequences: 1) reduced peroxisomal vlcfa beta-oxidation and 2) increased vlcfa-coa esters in the cytosol which are substrate for further chain elongation to longer fatty acids.
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Immunocytochemical studies have shown that in 70% of all x-ald patients aldp cannot be detected by immunofluorescence. extenze pills like viagra All mutations other than missense mutations disrupt the stability of aldp.
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Genetic counseling x-ald is inherited in an x-linked recessive manner. The abcd1 gene is the only gene associated with x-ald.
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All daughters of an affected male are carriers; none of his sons will be affected.
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