HEXB wt Allele

Preferred Label : HEXB wt Allele;

NCIt synonyms : HCC7; ENC-1AS; Hexosaminidase B (Beta Polypeptide) Gene; HEL-248; HEL-S-111; Hexosaminidase Subunit Beta wt Allele; Hexosaminidase B Gene;

NCIt definition : Human HEXB wild-type allele is located in the vicinity of 5q13.3 and is approximately 83 kb in length. This allele, which encodes beta-hexosaminidase subunit beta protein, is involved in the hydrolysis of neutral glycans. Mutations in the gene are associated with Sandhoff disease.;

GenBank Accession Number : M13519;

Details

Origin ID

C201735;

OMIM relation
- Hexosaminidase b [OMIM gene]
gene_found_in_organism
- Human [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]
- Fertilization [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

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