Mannosidase, Beta A, Lysosomal

Alternative Names

  • MANBA
  • MANB1
  • Mannanase
  • Mannase
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OMIM Number

609489

NCBI Gene ID

4126

Uniprot ID

O00462

Length

130,199 bases

No. of Exons

21

No. of isoforms

1

Protein Name

Beta-mannosidase

Molecular Mass

100895 Da

Amino Acid Count

879

Genomic Location

chr4:102,630,769-102,760,967

Gene Map Locus
4q24

Description

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005908.3:c.545G>AUnited Arab EmiratesNC_000004.12:g.102722875C>TUncertain SignificancePathogenicMannosidosis, Beta A, LysosomalNG_012804.1:g.43120G>A; NM_005908.3:c.545G>A; NP_005899.3:p.Arg182Gln759103361984911
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