| Primary Identifier | MGI:104328 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 13650 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Predicted to be involved in several processes, including chaperone-mediated protein complex assembly; negative regulation of protein secretion; and regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in Golgi membrane and endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; extraembryonic component; eye; and genitourinary system. Orthologous to human RHBDF1 (rhomboid 5 homolog 1). PHENOTYPE: Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits. [provided by MGI curators] |