MAN2B2

Chr 4AR

mannosidase alpha class 2B member 2

Also known as: CDG1EE, EpMAN

NCBI Gene: 23324 ENSG00000013288 UniProt: Q9Y2E5 OMIM: 618899

The protein specifically cleaves terminal alpha 1,6-linked mannose residues on small core oligosaccharides during N-glycan degradation pathways. Mutations cause congenital disorder of glycosylation type 1EE with or without immunodeficiency, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (LOEUF 1.011), suggesting complete loss of function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable alpha-mannosidase activity. Predicted to be involved in mannose metabolic process and oligosaccharide catabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…