HEXA wt Allele

Preferred Label : HEXA wt Allele;

NCIt synonyms : Tay Sachs Disease Gene; GM2 Gangliosidosis Gene; TSD; Hexosaminidase Subunit Alpha wt Allele;

NCIt definition : Human HEXA wild-type allele is located in the vicinity of 15q23 and is approximately 35 kb in length. This allele, which encodes beta-hexosaminidase subunit alpha protein, plays a role in 3-beta hexosaminidase activity. Mutation of the gene is associated with Tay Sachs disease and other forms of GM2-related gangliosidosis.;

NCI Metathesaurus CUI : CL1920882;

GenBank Accession Number : M13520;

Détails

Origin ID

C201732;

UMLS CUI

C5890931;

OMIM relation
- Hexosaminidase a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q23 [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
- Ganglioside Biosynthesis Pathway [NCIt concept]
- Globoside Metabolism Pathway [NCIt concept]
- Glycoprotein Degradation Pathway [NCIt concept]
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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