HK1 wt Allele - CISMeF

Preferred Label : HK1 wt Allele;

NCIt synonyms : HK1-ta; HK1-tb; HK1-tc; HMSNR; HXK1; Hexokinase Gene; NMSR; NEDVIBA; RP79; HKD; HK; HKI; Hexokinase 1 wt Allele;

NCIt definition : Human HK1 wild-type allele is located in the vicinity of 10q22.1 and is approximately 132 kb in length. This allele, which encodes hexokinase-1 protein, plays a role in glycolysis and innate immunity. Mutation of the gene is associated with retinitis pigmentosa 79, hexokinase deficiency, neurodevelopmental disorder with visual defects and brain anomalies, and Russe type hereditary motor and sensory neuropathy.;

NCI Metathesaurus CUI : CL1920899;

GenBank Accession Number : M75126;

Details

Origin ID

C201738;

UMLS CUI

C5890886;

OMIM relation
- Hexokinase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
- Butirosin and Neomycin Biosynthesis Pathway [NCIt concept]
- Fructose and Mannose Metabolism Pathway [NCIt concept]
- Galactose Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
- Insulin/Insulin Receptor Signaling Pathway [NCIt concept]
- Shigellosis Pathway [NCIt concept]
- Starch and Sucrose Metabolism Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycolysis [NCIt concept]
- Immunity [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients