Definition
noun
A hydrolytic enzyme implicated in the breakdown of ganglioside producing N-acetyl-D-galactosamine.
Supplement
Hexosaminidase A gene mapped on chromosome 15q23 that catalyzes the degradation of GM2 ganglioside and other molecules containing terminal N-acetyl hexosamines which has an alpha and beta subunit.
Hexosaminidase A gene provides instructions to make subunit enzyme beta-hexosaminidase A to play a vital role in the brain and the spinal cord located in the lysosomes that breakdown toxic substance and fatty substance known as GM2 ganglioside. It also acts as recycling centers and when it is deficient will caused brain and other nerve cells to die that lead to severe neurological problems.
Hexosaminidase A gene mutation has been associated as a cause of Tay-Sachs disease in which mutated gene reduced or eliminate the activity of the these enzyme from breaking down GM2 ganglioside resulting to build up of toxic levels particularly the nerve cells in the brain and spinal cord. Acute infantile Tay-Sachs is the most common form of hexosaminidase A deficiency resulted in gradual loss of movement and mental function that usually appears in infants between 3-6 months of age which also develop seizures, mental disability, hearing loss and eventually paralyzed.
Gene name: HEXA
Protein name: Beta-hexosaminidase subunit alpha
Synonyms:
• Beta-N-acetyl hexosaminidase subunit alpha
• Hex A
See also:
• Ganglioside
• Hexosamines
• Tay-Sachs disease
Dictionary > Hexosaminidase A
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