Dictionary > Hexosaminidase A

Hexosaminidase A

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


You will also like...

Homeostasis by water regulation
Homeostasis of Organism Water Regulation

Osmoregulation is the regulation of water concentrations in the bloodstream, effectively controlling the amount of water..

A chart depicting Mendel's Law of Dominance
Mendel’s Law & Mendelian Genetics

One of Mendel’s law of inheritance is the “law of dominance”. Read this tutorial to know more about this form of i..

Hormone Production
Hormone Production

Hormones are chemical messengers produced by specialized glands and they were produced by switching on the genes designe..

Schematic diagram of DNA replication
DNA Structure & DNA Replication

DNA is a double helix structure comprised of nucleotides. A nucleotide, in turn, is made up of phosphate molecule, deoxy..

Population Growth and Survivorship
Population Growth and Survivorship

This lesson looks at population attributes, regulation, and growth. It also covers population genetics, particularly gen..

Structural depiction of catalase, an enzyme
Protein Activity and Cellular Metabolism

Proteins have a crucial role in various biological activities. Get to know how proteins are able to perform as enzymes, ..

Related Articles...

No related articles found

See all Related Topics