DISEASES

Disease-gene associations mined from literature

Literature associating MAN1B1 and autosomal recessive non-syndromic intellectual disability

MAN1B1 [ENSP00000360645]

Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase; Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2).

Synonyms:  MAN1B1,  MAN1B1p,  hMAN1B1,  B3KQC5,  H0YFU3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM