Man2B1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Man2B1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Attribute | Value |
|---|---|
| Gene Symbol | MAN2B1 |
| Full Name | Mannosidase Alpha Class 2B Member 1 |
| Chromosomal Location | 19q13.13 |
| NCBI Gene ID | 4125 |
| OMIM ID | 604458 |
| Ensembl ID | ENSG00000112837 |
| UniProt ID | O00754 |
| Associated Diseases | Alpha-Mannosidosis |
The MAN2B1 gene encodes acid alpha-mannosidase, a lysosomal hydrolase that catalyzes the hydrolysis of terminal alpha-mannose residues from mannose-containing oligosaccharides. This enzyme is essential for the degradation of N-linked glycoproteins in the lysosome.
Acid alpha-mannosidase is a homodimeric glycoprotein with a molecular weight of approximately 280 kDa. Each subunit is proteolytically processed into a mature form consisting of heavy and light chains linked by disulfide bonds.
Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-mannosidase, leading to accumulation of mannose-rich oligosaccharides in various tissues.
The disease shows considerable phenotypic variability, with milder forms presenting later in life with less severe symptoms.
MAN2B1 is expressed in most tissues, with highest levels in:
The enzyme is targeted to lysosomes via mannose-6-phosphate receptor-mediated trafficking.
Man2B1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Man2B1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.