Primary Identifier | MGI:1934765 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 93695 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables heparin binding activity and integrin binding activity. Involved in several processes, including negative regulation of tumor necrosis factor production; positive regulation of ERK1 and ERK2 cascade; and positive regulation of protein phosphorylation. Acts upstream of or within cell adhesion. Located in cytoplasmic vesicle and plasma membrane. Is expressed in several structures, including brain; eye; heart ventricle; hemolymphoid system; and mesenchyme derived from neural crest. Used to study pigment dispersion syndrome. Human ortholog(s) of this gene implicated in primary localized cutaneous amyloidosis 3. Orthologous to human GPNMB (glycoprotein nmb). PHENOTYPE: Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation. [provided by MGI curators] |