Primary Identifier | MGI:104676 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 17156 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Acts upstream of or within glycoprotein metabolic process; lung alveolus development; and respiratory gaseous exchange by respiratory system. Located in Golgi membrane. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Orthologous to human MAN1A2 (mannosidase alpha class 1A member 2). PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators] |