Primary Identifier | MGI:1917585 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 70335 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in regulation of intracellular transport. Located in apical part of cell; endoplasmic reticulum membrane; and rod spherule. Is expressed in several structures, including extraembryonic component; gut; lung; retina; and urinary system. Used to study retinitis pigmentosa 77. Human ortholog(s) of this gene implicated in retinitis pigmentosa 77. Orthologous to human REEP6 (receptor accessory protein 6). PHENOTYPE: Homozygous null mice exhibit photoreceptor degenaration and dysfunction, with an expansion of the distal endoplasmic reticulum and increased mitochondria number in rods. [provided by MGI curators] |