Description
HEXB, also known as Beta-hexosaminidase subunit beta, is a 556 amino acid that is 63 kDa, lysosome located, composed of two subunits, alpha and beta, which are encoded by separate gene, and in control of the degradation of GM2 gangliosides and other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. Current research is being performed on several diseases and disorders including gangliosidosis, sandhoff disease, infantile, juvenile, and adult forms, tay-sachs disease, neuronitis, lysosomal storage disease, motor neuron disease, cervical cancer, mucopolysaccharidosis, cervicitis, neurodegenerative disease, recurrent respiratory papillomatosis, hairy cell leukemia, macrocephaly, autonomic dysfunction, cholesteatoma, type 2 diabetes mellitus, rheumatoid arthritis, and diarrhea. The protein has been linked to pathways such as glycan degradation, amino sugar and nucleotide sugar metabolism, glycosaminoglycan degradation, glycosphingolipid biosynthesis - globo series, glycosphingolipid biosynthesis - ganglio series, MPS VI - Maroteaux-Lamy syndrome, metabolic pathways, and lysosome pathways where it interacts with EIF2D, GYG1, CSNK2B, CHIA,CHIT1, and CHIT1 proteins.
Bioinformatics
| Entrez |
Human
|
| Uniprot |
Human
Human
Human
|
| Product By Gene ID |
3074 |
| Alternate Names |
- beta-hexosaminidase subunit beta
- Beta-N-acetylhexosaminidase subunit beta
- Cervical cancer proto-oncogene 7 protein
- EC 3.2.1.52
- ENC-1AS
- HCC-7
- hexosaminidase B (beta polypeptide)
- Hexosaminidase subunit B
- N-acetyl-beta-glucosaminidase subunit beta
|
