Primary Identifier | MGI:2443696 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 230866 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to contribute to membrane insertase activity. Predicted to be involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum. Is expressed in lung. Human ortholog(s) of this gene implicated in cerebellar atrophy, visual impairment, and psychomotor retardation. Orthologous to human EMC1 (ER membrane protein complex subunit 1). PHENOTYPE: Mice with loss of expression in rods or cones show photoreceptor degeneration. [provided by MGI curators] |