HEXA
Chr 15ARhexosaminidase subunit alpha
Also known as: TSD
This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Primary Disease Associations & Inheritance
Clinical highlights
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
HEXA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
First-in-Human Study of TSHA-101 Gene Therapy for Treatment of Infantile Onset GM2 Gangliosidosis
ACTIVE NOT RECRUITINGLong-Term Follow-Up of Subjects Treated With AXO-AAV-GM2 for Tay-Sachs or Sandhoff Disease
ACTIVE NOT RECRUITINGTranslational Potential of ex Vivo Gene Therapy in GM2 Gangliosidosis
NOT YET RECRUITINGA Natural History Study of the Gangliosidoses
RECRUITINGThe Myelin Disorders Biorepository Project
RECRUITINGExternal Resources
Links to major genomics databases and tools