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 …

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 …

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 …

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. …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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, …

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 …

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 …

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., …