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Protein Page:
MAN2B1 (human)

Overview
MAN2B1 Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages. Defects in MAN2B1 are the cause of lysosomal alpha- mannosidosis (AM). AM is 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 mental retardation, recurrent infections, impaired hearing and Hurler- like skeletal changes being the most consistent abnormalities. Belongs to the glycosyl hydrolase 38 family. Note: This description may include information from UniProtKB.
Protein type: EC 3.2.1.24; Glycan Metabolism - other glycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: 19p13.2
Cellular Component: extracellular space; lysosomal lumen
Molecular Function: alpha-mannosidase activity
Biological Process: mannose metabolic process; oligosaccharide catabolic process; protein deglycosylation; protein modification process
Disease: Mannosidosis, Alpha B, Lysosomal
Reference #:  O00754 (UniProtKB)
Alt. Names/Synonyms: LAMAN; Lysosomal acid alpha-mannosidase; Lysosomal alpha-mannosidase; Lysosomal alpha-mannosidase A peptide; Lysosomal alpha-mannosidase B peptide; Lysosomal alpha-mannosidase C peptide; Lysosomal alpha-mannosidase D peptide; Lysosomal alpha-mannosidase E peptide; MA2B1; MAN2B1; MANB; Mannosidase alpha class 2B member 1; Mannosidase alpha-B; mannosidase, alpha B, lysosomal; mannosidase, alpha, class 2B, member 1
Gene Symbols: MAN2B1
Molecular weight: 113,744 Da
Basal Isoelectric point: 6.84  Predict pI for various phosphorylation states
Select Structure to View Below

MAN2B1

Protein Structure Not Found.


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