MAN2B1
Function
Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Involvement in disease
Mannosidosis, alpha B, lysosomal
MANSA
A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with intellectual disability, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
First processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). The 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked.
Heavily glycosylated.
Sequence Similarities
Belongs to the glycosyl hydrolase 38 family.
Cellular localization
- Lysosome
Alternative names
LAMAN, MANB, MAN2B1, Lysosomal alpha-mannosidase, Laman, Lysosomal acid alpha-mannosidase, Mannosidase alpha class 2B member 1, Mannosidase alpha-B