Primary Identifier | MGI:1330239 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 13480 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables dolichyl-phosphate beta-D-mannosyltransferase activity. Acts upstream of or within GPI anchor biosynthetic process; dolichol metabolic process; and response to oxygen levels. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be part of dolichol-phosphate-mannose synthase complex. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation Ie. Orthologous to human DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic). PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in chorion, placenta and trophoblast layer formation, increased trophoblast giant cell number and size, and complete embryonic lethality during organogenesis. [provided by MGI curators] |