MANBA

Chr 4AR

mannosidase beta

Also known as: MANB1

NCBI Gene: 4126 ENSG00000109323 UniProt: O00462 OMIM: 609489

This gene encodes a lysosomal exoglycosidase that cleaves beta-linked mannose residues from N-linked glycoprotein oligosaccharides, serving as the final enzyme in the oligosaccharide catabolism pathway. Mutations cause beta-mannosidosis, an autosomal recessive lysosomal storage disease with a wide spectrum of neurological involvement. The gene shows low constraint to loss-of-function variation (pLI near zero), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mannosidosis, betaMIM #248510

Clinical highlights

Gene-disease validity (ClinGen)

beta-mannosidosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.96

LOEUF

LOF

Mechanism· G2P

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GeneReview available — MANBA