MAN2A1
Description
The MAN2A1 (mannosidase alpha class 2A member 1) is a protein-coding gene located on chromosome 5.
MAN2A1 encodes a protein belonging to glycosyl hydrolase family 38. This protein is localized to the Golgi apparatus and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-linked glycosylation) maturation pathway. Mutations in the mouse MAN2A1 homolog have been linked to a systemic autoimmune disease resembling human systemic lupus erythematosus.
MAN2A1 catalyzes the initial step in the synthesis of complex N-glycans. It regulates the conversion of high-mannose N-glycans to complex N-glycans, representing the final hydrolytic step in N-glycan maturation.
MAN2A1 is also known as AMan II, GOLIM7, MANA2, MANII.
Associated Diseases
- schizophrenia
- COVID-19
- alcohol-related disorders
- Alzheimer disease
- common variable immunodeficiency
- dehydrated hereditary stomatocytosis
- congenital dyserythropoietic anemia type 4
- immunodeficiency 72 with autoinflammation
- immunodeficiency, common variable, 6
- autoimmune lymphoproliferative syndrome type 2A
