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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]
Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase, [1] in sufficient quantities. This may result in exercise intolerance, muscle pain and muscle cramping. The disease was formerly known as myoadenylate deaminase deficiency (MADD).
This 85-kDa protein is one of two subunit types that comprise the seven tetrameric PFK isozymes. [6] [7] The muscle isozyme is composed solely of PFKM.[6] [8] [9] The liver PFK (PFK-5) contains solely the second subunit type, PFKL, while the erythrocyte PFK includes five isozymes composed of different combinations of PFKM and PFKL.
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
The last image we have of Patrick Cagey is of his first moments as a free man. He has just walked out of a 30-day drug treatment center in Georgetown, Kentucky, dressed in gym clothes and carrying a Nike duffel bag.
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 ...