Primary Identifier | MGI:1859214 | Organism | mouse, laboratory |
Chromosome | 16 | NCBI Gene Number | 54128 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable phosphomannomutase activity. Predicted to be involved in mannose metabolic process and protein N-linked glycosylation. Located in cytoplasm and neuronal cell body. Is expressed in several structures, including alimentary system; brain; liver; nose; and respiratory system. Used to study congenital disorder of glycosylation type I. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation and congenital disorder of glycosylation Ia. Orthologous to human PMM2 (phosphomannomutase 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality around E2.5. Transmission of the maternal null allele is severely impaired. [provided by MGI curators] |