Primary Identifier | MGI:1923457 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 103743 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in several processes, including T-helper 1 cell differentiation; negative regulation of protein processing; and regulation of nervous system development. Located in endoplasmic reticulum membrane and extracellular space. Is expressed in pigmented retinal epithelium; spinal cord; and white matter. Human ortholog(s) of this gene implicated in nanophthalmos. Orthologous to human TMEM98 (transmembrane protein 98). PHENOTYPE: Homozygous KO is embryonic lethal. Heterozygous KO and certain homozygous and compound heterozygous point mutations lead to retinal white spots and folds. [provided by MGI curators] |