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MAN2B1 (NM_001173498) - mannosidase alpha class 2B member 1

Lysosomal Alpha-Mannosidase Isoform 2 Precursor

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of MAN2B1 protein. View all 2 isoforms
MAN2B1: lysosomal alpha-mannosidase isoform 2 precursor
Description:

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.[provided by RefSeq, Mar 2010].

Strand
-
Chromosome
19
Protein
1010 residues
All mutations
248
PTM sites
9
CDS
12,757,433 - 12,777,515
Transcription
12,757,321 - 12,777,591
8.02% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 4125
UniProt
Ensembl