Pathway
Defective HEXB causes GM2G2 (Hyaluronan metabolism)
Beta-hexosaminidase (HEX) cleaves the terminal N-acetyl galactosamine (GalNAc) from glycosaminoglycans (GAGs) and any other molecules containing a terminal GalNAc. There are two forms of HEX; HEXA and B. The A form is a trimer of the subunits alpha, beta A and beta B. The B form is a tetramer of 2 beta A and 2 beta B subunits. Defects in the two subunits cause lysosomal storage diseases marked by the accumulation of GM2 gangliosides in neuronal cells.
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Defects in the beta subunits are the cause of GM2-gangliosidosis type 2 (GM2G2; MIM:268800), also known as Sandhoff disease. Sandhoff disease is an autosomal recessive lysosomal storage disease clinically indistinguishable from GM2-gangliosidosis type 1, presenting early blindness with cherry-red spots on the macula, progressive motor and mental deterioration and macrocephaly. Death usually occurs by the age of 3 years.
What the reference databases state
Statements
1 statement
1 statement · 1 reference database · Subject: Defective HEXB causes GM2G2 (Hyaluronan metabolism) · Sources: Reactome
- HEXB participates in Defective HEXB causes GM2G2 (Hyaluronan metabolism)ProteinReactome R-HSA-3656248Inferred only