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.

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.

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?

Biosynthetically explaining these observations, N-acetyl-β-D-hexosaminidase (Hex) subunit β (HEXB) was found to be over-expressed in CRC tissues relative to normal adjacent colorectal tissues and colocalization and enzyme inhibition studies confirmed that HEXB facilitates paucimannosidic protein biosynthesis in CRC cells.

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.

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.

The α and β subunits are encoded by separate genes, HEXA and HEXB respectively. β-Hexosaminidase and the cofactor G M2 activator protein catalyze the degradation of the G M2 gangliosides and other molecules containing terminal N-acetyl hexosamines. [8]

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 …

To develop a new microglia gene targeting model, we first applied massively parallel single-cell analyses to compare microglia and CAM signatures during homeostasis and disease and identified hexosaminidase subunit beta (Hexb) as a stably expressed microglia core gene, whereas other microglia core genes were substantially downregulated during ...

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 provides instructions for making a protein that is one part (the beta subunit) of two related enzymes, beta-hexosaminidase A and beta-hexosaminidase B. Each of these enzymes is made up of two subunits.

2024年10月21日 · Sandhoff disease (SD) is an LSD caused by a deficiency in the β subunit of the β-hexosaminidase enzyme (Hexb). Although Hexb expression in the brain is specific to microglia, SD primarily affects neurons.

2025年2月8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 …

The Invitae Sandhoff Disease Test analyzes the hexosaminidase B (HEXB) gene. Pathogenic variants in HEXB are known to cause Sandhoff disease. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions.

HEXB has 5,478 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or …

There are 3 forms of beta-hexosaminidase: hexosaminidase A is a heterodimer composed of one subunit alpha and one subunit beta (chain A and B); hexosaminidase B is a homodimer of two beta subunits (two chains A and B); hexosaminidase S is a homodimer of …

2024年9月1日 · RIT2 regulates activity-dependent CLEAR gene expression via TFEB/TFE3 localization. Loss of RIT2 impairs autophagosome formation and lysosomal hydrolase expression. Upregulation of RIT2 enhances autophagic flux and prevents α-synuclein aggregation.

The hexatic-B, HexB, and smectic-I, -F, SmI and SmF or also HexI and HexF, are examples. In the following, we will concentrate only on those smectics that are fluid along the layers, i.e., which can be considered as stacks of 2D fluids.