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Hexokinase deficiency is an extremely rare autosomal recessive condition that falls under the category of erythroenzymopathies, or defects in red cell enzymes. [2] Hexokinase deficiency manifests is associated with chronic nonspherocytic hemolytic anemia . [ 3 ]
Hexokinase I, also known as hexokinase A and HK1, is an enzyme that in humans is encoded by the HK1 gene on chromosome 10. Hexokinases phosphorylate glucose to produce glucose-6-phosphate (G6P), the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of ...
Hexokinase deficiency is a genetic autosomal recessive disease that causes chronic haemolytic anaemia. Chronic haemolytic anaemia is caused by a mutation in the gene that codes for hexokinase. The mutation causes a reduction of the hexokinase activity, and hence hexokinase deficiency. [11]
Pharos was a small island located on the western edge of the Nile Delta.In 332 BC, Alexander the Great founded the city of Alexandria on an isthmus opposite Pharos. . Alexandria and Pharos were later connected by a mole [6] spanning more than 1,200 metres (0.75 miles), which was called the Heptastadion ("seven stadia"—a stadion was a Greek unit of length measuring approximate
80201 216019 Ensembl ENSG00000156510 ENSMUSG00000020080 UniProt Q2TB90 Q91W97 RefSeq (mRNA) NM_025130 NM_145419 RefSeq (protein) NP_079406 NP_663394 Location (UCSC) Chr 10: 69.22 – 69.27 Mb Chr 10: 62.22 – 62.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Hexokinase domain containing 1 (HKDC1) is an enzyme which in humans is encoded by the HKDC1 gene on chromosome 10. It is a ...
Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. LNS affects about 1 in 380,000 live births. [3]
A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the gene's expression, but without causing disease. For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy.
Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase (PFK) enzyme throughout the body, including the skeletal muscles and red blood cells. Phosphofrucotkinase is an enzyme involved in the glycolytic process.