Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes.

2024年12月25日 · HEXB (Hexosaminidase Subunit Beta) is a Protein Coding gene. Diseases associated with HEXB include Sandhoff Disease and Motor Neuron Disease. Among its related pathways are Glycosaminoglycan metabolism and Sphingolipid metabolism.

Sandhoff disease is a rare genetic condition that usually appears in infants. Lack of an enzyme called beta-hexosaminidase causes toxic levels of fat in the brain and spinal cord nerve cells. Sandhoff disease causes problems in muscles, organs and development, usually leading to death in early childhood. What is Sandhoff disease?

The HEXB gene provides instructions for making a protein that is a part (subunit) of two related enzymes, beta-hexosaminidase A and beta-hexosaminidase B. Learn about this gene and related health conditions.

2020年6月15日 · Prinz and colleagues identify hexosaminidase subunit beta (Hexb) to be specifically expressed by microglia and stable even under inflammatory conditions.

Sandhoff disease is caused by variants (also known as mutations) in the HEXB gene. The HEXB gene provides instructions for making a protein that is part of two critical enzymes in the nervous system, beta-hexosaminidase A and beta-hexosaminidase B.

The HEXB gene encodes the beta subunit of the enzyme hexosaminidase (EC 3.2.1.52), which is involved in the breakdown of gangliosides.

a modified human hexosaminidase subunit beta (HexB), which we have termed mod2B, composed of homodimeric beta subunits that contain amino acid sequences from the alpha subunit that confer GM2 ganglioside-degrading activity and protease resistance. Mutations of the HEXB gene is associated with maple syrup urine disease or Sandhoff disease.

2024年11月27日 · Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate …

2019年5月29日 · hexb −/− deficiency causes reduced locomotor activity and increased apoptosis in the brain. The earliest symptoms that present in SD patients are loss of muscle strength and reduced motor function, both of which are likely caused by atrophy of the innervating lower and/or upper motor neurons.