Entity Details

Primary name MAN2B1
Entity type gene
Source Source Link

Details

PrimaryID4125
RefseqGeneNG_008318
SymbolMAN2B1
Namemannosidase alpha class 2B member 1
Chromosome19
Location19p13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-12-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMA2B1_HUMAN

GO terms

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GOName
GO:0004559 alpha-mannosidase activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005764 lysosome
GO:0005774 vacuolar membrane
GO:0006013 mannose metabolic process
GO:0006464 cellular protein modification process
GO:0006517 protein deglycosylation
GO:0009313 oligosaccharide catabolic process
GO:0030246 carbohydrate binding
GO:0035578 azurophil granule lumen
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0043312 neutrophil degranulation
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
248500 OMIMMannosidosis, alpha B, lysosomal (MANSA)A lysosomal storage disease characterized by accumulation of unbranched oligosaccharide chains. This accumulation is expressed histologically as cytoplasmic vacuolation predominantly in the CNS and parenchymatous organs. Depending on the clinical findings at the age of onset, a severe infantile (type I) and a mild juvenile (type II) form of alpha-mannosidosis are recognized. There is considerable variation in the clinical expression with mental retardation, recurrent infections, impaired hearing and Hurler-like skeletal changes being the most consistent abnormalities. The disease is caused by variants affecting the gene represented in this entry.