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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] Hemolytic anemia seems to be the only clinical sign of hexokinase deficiency. [4]
The HK1 gene spans approximately 131 kb and consists of 25 exons. Alternative splicing of its 5’ exons produces different transcripts in different cell types: exons 1-5 and exon 8 (exons T1-6) are testis-specific exons; exon 6, located approximately 15 kb downstream of the testis-specific exons, is the erythroid-specific exon (exon R); and exon 7, located approximately 2.85 kb downstream 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]
This is a list of primary immunodeficiencies (PID), which are immune deficiencies that are not secondary to another condition.. The International Union of Immunological Societies recognizes nine classes of primary immunodeficiencies, totaling approximately 430 conditions.
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 ...
Today, 538 is unveiling a new polling average for President Donald Trump's job approval rating. Based on the 11 polls released since his inauguration on Jan. 20, Trump's average approval rating ...
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]
Shanahan's warning video was posted hours after Kennedy's cousin, Caroline Kennedy, publicly urged the Senate to oppose his nomination, calling him a "predator" who is "addicted to attention and ...