EAW77902.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
19,326 Da
NCBI Official Full Name
hexosaminidase A (alpha polypeptide)
NCBI Official Synonym Full Names
hexosaminidase A (alpha polypeptide)
NCBI Official Synonym Symbols
NCBI Protein Information
beta-hexosaminidase subunit alpha
UniProt Protein Name
Beta-hexosaminidase subunit alpha
UniProt Synonym Protein Names
Beta-N-acetylhexosaminidase subunit alpha; Hexosaminidase subunit A; N-acetyl-beta-glucosaminidase subunit alpha
UniProt Synonym Gene Names
UniProt Entry Name
HEXA_HUMAN
NCBI Summary for HEXa
This gene encodes the alpha subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Alpha subunit gene mutations lead to Tay-Sachs disease (GM2-gangliosidosis type I). [provided by RefSeq, Jul 2009]
UniProt Comments for HEXa
HEXA: Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity. Defects in HEXA are the cause of GM2-gangliosidosis type 1 (GM2G1); also known as Tay-Sachs disease. GM2- gangliosidosis is an autosomal recessive lysosomal storage disease marked by the accumulation of GM2 gangliosides in the neuronal cells. GM2G1 is characterized by GM2 gangliosides accumulation in the absence of HEXA activity, leading to neurodegeneration and, in the infantile form, death in early childhood. GM2G1 has an increased incidence among Ashkenazi Jews and French Canadians in eastern Quebec. It exists in several forms: infantile (most common and most severe), juvenile and adult (late onset). Belongs to the glycosyl hydrolase 20 family.
Protein type: EC 3.2.1.52; Hydrolase; Glycan Metabolism - glycosaminoglycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Glycan Metabolism - other glycan degradation; Glycan Metabolism - glycosphingolipid biosynthesis - ganglio series; Carbohydrate Metabolism - amino sugar and nucleotide sugar
Chromosomal Location of Human Ortholog: 15q24.1
Cellular Component: lysosomal lumen; membrane
Molecular Function: protein heterodimerization activity; beta-N-acetylhexosaminidase activity
Biological Process: chondroitin sulfate metabolic process; keratan sulfate metabolic process; sphingolipid metabolic process; glycosaminoglycan metabolic process; chondroitin sulfate catabolic process; carbohydrate metabolic process; glycosphingolipid metabolic process; pathogenesis; keratan sulfate catabolic process; hyaluronan metabolic process; hyaluronan catabolic process
Disease: Tay-sachs Disease
Research Articles on HEXa
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Products associated with HEXa elisa kit
Pathways associated with HEXa elisa kit
Diseases associated with HEXa elisa kit
Organs/Tissues associated with HEXa elisa kit
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