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MAN2B1 mannosidase alpha class 2B member 1

Gene ID: 4125, updated on 3-Apr-2024
Gene type: protein coding
Also known as: MANB; LAMAN

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Deficiency of alpha-mannosidase
MedGen: C0024748OMIM: 248500GeneReviews: Alpha-Mannosidosis
See labs
Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study.
GeneReviews: Not available

Genomic context

Location:
19p13.13
Sequence:
Chromosome: 19; NC_000019.10 (12646512..12666742, complement)
Total number of exons:
24

Links

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