Primary Identifier | MGI:104669 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 17158 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables hydrolase activity, hydrolyzing N-glycosyl compounds and mannosidase activity. Acts upstream of or within several processes, including N-glycan processing; lung alveolus development; and retina morphogenesis in camera-type eye. Located in Golgi membrane; cis-Golgi network; and extracellular space. Is expressed in adrenal gland; gland; meninges; and white fat. Used to study congenital dyserythropoietic anemia and systemic lupus erythematosus. Orthologous to human MAN2A1 (mannosidase alpha class 2A member 1). PHENOTYPE: Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria, [provided by MGI curators] |