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MAN2B1 encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Zusätzlich bieten wir Ihnen Mannosidase, Alpha, Class 2B, Member 1 Antikörper (11) und Mannosidase, Alpha, Class 2B, Member 1 Proteine (10) und viele weitere Produktgruppen zu diesem Protein an.
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Mannose receptor (-/-) liver sinusoidal endothelial cells had markedly and significantly reduced enzyme activities for four out of five lysosomal enzymes tested, i.e., cathepsin-D, alpha-mannosidase, beta-hexosaminidase and arylsulfatase.
A novel heterozygous mutation (c.2013G>A; p.R638H) of MANBA (zeige MANBA ELISA Kits) was identified in patients with autosomal-dominant nystagmus. An additional mutation (c.2346T>A; p.L749H) in MANBA (zeige MANBA ELISA Kits) was found by screening patients with sporadic nystagmus.
Our results indicate a correlation between the MAN2B1 genotypes and the cognitive function, upper limb coordination, balance, FVC% and the storage of oligosaccharides in CSF (zeige CSF2 ELISA Kits).
The results showed that the alpha-mannosidosis patient has compound heterozygous mutations in the MAN2B1 gene
MAN2B1 is targeted to the vacuole without passing through the Golgi complex.
Expressed MAN2B1 and MAN2B2 in Drosophila S2 cells and functionally characterized them. MAN2B1 and MAN2B2 were significantly inhibited by the class II alpha-mannosidase inhibitors, swainsonine and mannostatin A.
5 new mutations were found in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D). p.H200L could involve the catalytic mechanism. p.G801D would affect correct folding.
This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
mannosidase, alpha, class 2B, member 1
, lysosomal alpha-mannosidase (109.3 kD) (XF355)
, lysosomal alpha-mannosidase
, lysosomal alpha-mannosidase-like
, lysosomal acid alpha-mannosidase
, mannosidase alpha class 2B member 1
, mannosidase alpha-B
, mannosidase 2, alpha B1
, mannosidase, alpha B, lysosomal