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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 ]
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 ...
5,10-methenyltetrahydrofolate synthetase deficiency: MTHFS [2] 7p22.1 microduplication syndrome: 7p22.1 17q12 microdeletion syndrome: 17q12 [3] [4] 1:14,000-62,500 17q12 microduplication syndrome: 17q12 [5] 18p deletion syndrome: 18p D 1:50,000 21-hydroxylase deficiency: 6p21.3 recessive 1:15,000 Alpha 1-antitrypsin deficiency: 14q32 co ...
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.
Scientists have found that human beings age at a molecular level in two accelerated bursts. Skip to main content. 24/7 Help. For premium support please call: 800-290-4726 more ways to ...
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]
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 ...
Phosphofructokinase deficiency; Other names: Glycogen storage disease type VII or Tarui's disease [1] [2] A rendering of the human muscular form of phosphofructokinase. Mutations in the production of this enzyme are the cause of Tarui's disease. [3] The symmetry of the enzyme is a result of its tetrameric structure. Specialty: Endocrinology ...