Beta-Hexosaminidase Subunit Alpha

Preferred Label : Beta-Hexosaminidase Subunit Alpha;

NCIt synonyms : Hexosaminidase Subunit A; EC 3.2.1.52; Beta-Hexosaminidase Alpha-Subunit; N-Acetyl-Beta-Glucosaminidase Subunit Alpha; HEXA; Hexosaminidase Subunit Alpha; Beta-N-Acetylhexosaminidase Subunit Alpha;

NCIt definition : Beta-hexosaminidase subunit alpha (529 aa, 61 kDa) is encoded by the human HEXA gene. This protein is involved in the hydrolysis of molecules containing terminal N-acetyl hexosamines, including GM2 gangliosides.;

NCIt note : Beta-hexosaminidase subunit alpha (HEXA) is present in two beta-hexosaminidase isozymes. They are: beta-hexosaminidase isozyme A, which is a heterodimer composed of one copy of HEXA and one beta subunit (HEXB), and beta-hexosaminidase isozyme S, which is a homodimer of two copies of HEXA. The hydrolysis of GM2 gangliosides by beta-hexosaminidase isozyme A is dependent on the presence of GM2 activator protein.;

Details

Origin ID

C201733;

OMIM relation
- Hexosaminidase a [OMIM gene]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- HEXA Gene [NCIt concept]
- Hydrolase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Lysosome [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_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_product_plays_role_in_biological_process
- Biosynthetic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients