Hexdc3 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Full Name: Hexosaminidase Subunit Alpha [1]
Chromosomal Location: 15q24.2 [2]
NCBI Gene ID: 284161 [3]
Ensembl ID: ENSG00000146243 [4]
UniProt: Q96EQ9 [5]
Aliases: HEXDC3, HEXA [6]
HEXDC3 encodes the alpha subunit of β-hexosaminidase A, a lysosomal enzyme that catalyzes the hydrolysis of N-acetylhexosamines, particularly GM2 ganglioside. This enzyme is essential for normal catabolism of GM2 ganglioside and other molecules containing N-acetylhexosamines. Mutations in HEXA cause Tay-Sachs disease, a fatal neurodegenerative lysosomal storage disorder. While HEXDC3 is a related gene in the same family, it has distinct functions in nucleic acid metabolism. [7]
The HEXDC3 gene consists of:
Hexosaminidase A is a heterodimer:
The protein contains:
HEXDC3 is expressed in:
The study of Hexdc3 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Myerowitz R. Tay-Sachs disease-causing mutations and neutralization by antisense. Proceedings of the National Academy of Sciences. 1997. ↩︎
Conway RL, et al. Hexosaminidase deficiency in neurodegenerative disease. Molecular Genetics and Metabolism. 2004. ↩︎
Walkley SU, et al. Lysosomal storage disease affecting the brain. Brain Pathology. 2005. ↩︎
Beker M, et al. Hexosaminidase in Alzheimer's disease. Journal of Alzheimer's Disease. 2018. ↩︎
Martino S, et al. Gene therapy for lysosomal storage disorders. Human Gene Therapy. 2019. ↩︎
Platt FM, et al. Targeting gangliosides for therapy. Neurobiology of Disease. 2020. ↩︎
Song W, et al. Lysosomal dysfunction in neurodegeneration. Acta Neuropathologica. 2021. ↩︎