HEXB
Hexosaminidase subunit beta
Also known as: HEXB, Hex B
Biology & Mechanism
HEXB encodes the beta subunit of hexosaminidase, a lysosomal enzyme required for ganglioside catabolism. HEXB deficiency causes Sandhoff disease, a lysosomal storage disorder with progressive neurodegeneration. In the CNS, HEXB is highly expressed in microglia, and its deficiency leads to lysosomal dysfunction and microglial pathology. HEXB is also a marker used to distinguish microglia from other brain myeloid cells in single-cell studies.
Open Questions
- —Does HEXB insufficiency contribute to lysosomal dysfunction in sporadic neurodegeneration beyond Sandhoff disease?
- —Can restoration of HEXB activity in microglia improve lysosomal clearance in AD models?
- —Is HEXB expression a reliable marker distinguishing microglia from CNS-associated macrophages?
Sources
- A human microglial gene expression atlas from the Allen Brain Cell Atlas (2023)
Last reviewed: June 1, 2026