MAN2B2 Proteins

Protein Information

The MAN2B2 (Mannosidase Alpha Class 2B Member 2) gene encodes an enzyme that is involved in the processing and modification of glycoproteins by hydrolyzing alpha-mannosidic linkages. Located on chromosome 4, the MAN2B2 protein is crucial for proper lysosomal function and is part of the glycosyl hydrolase family. Pathogenic variants in the MAN2B2 gene have been linked to a rare congenital disorder of glycosylation (CDG), known as MAN2B2-CDG, characterized by immune deficiency, developmental delay, stroke, and dysmorphic facial features. These mutations lead to an altered mannosylation profile, impacting glycoprotein processing and cellular functions. Studies have shown that reintroducing wild-type MAN2B2 can restore the normal mannosylation profile in patient cells, highlighting its therapeutic potential. Furthermore, recent research has identified circular RNA from this gene (circMAN2B2) that is implicated in the proliferation of hepatocellular carcinoma cells, suggesting a role in cancer biology.

Synonyms

135 kD alpha-D-mannosidase; 135 kDa alpha-D-mannosidase; Ab2-450; core-specific lysosomal alpha-1,6-Mannosidase; Epididymis-specific alpha-mannosidase; HMG17L3; Kiaa0935; MAN2B2; mannosidase 2, alpha B2; mannosidase alpha class 2B member 2; mannosidase, alpha, class 2B, member 2; mKIAA0935; NHC