HEXA
HEXA
HEXA (pronounced: /ˈhɛksə/), also known as Hexosaminidase A, is an enzyme that in humans is encoded by the HEXA gene. It is a crucial component in the lysosomal degradation of gangliosides.
Etymology
The term HEXA is an abbreviation derived from the enzyme's full name, Hexosaminidase A. The prefix "hex-" comes from the Greek word for six, referring to the six carbon atoms in the hexose sugar molecule that the enzyme acts upon. The "-ase" suffix is used in biochemistry to denote an enzyme.
Function
HEXA is a lysosomal enzyme that degrades gangliosides, specifically GM2 gangliosides, in the brain and other tissues. It is composed of an alpha and beta subunit, which are encoded by the HEXA and HEXB genes respectively.
Clinical Significance
Mutations in the HEXA gene can lead to a deficiency of HEXA enzyme activity, resulting in the accumulation of GM2 gangliosides in neurons. This accumulation leads to a progressive neurodegenerative disorder known as Tay-Sachs disease.
Related Terms
- Ganglioside: A type of glycosphingolipid that is found in the cell membranes of neurons.
- HEXB: The gene that encodes the beta subunit of the Hexosaminidase A enzyme.
- Tay-Sachs disease: A rare and usually fatal genetic disorder that results from the deficiency of Hexosaminidase A enzyme activity.
External links
- Medical encyclopedia article on HEXA
- Wikipedia's article - HEXA
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