Primary Identifier | MGI:1930923 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 57277 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable acetylcholine receptor activator activity. Acts upstream of or within several processes, including locomotory behavior; negative regulation of keratinocyte proliferation; and neuromuscular process controlling posture. Predicted to be located in extracellular space. Is expressed in cornea; ductus deferens; prostate gland; and testis. Used to study mal de Meleda. Human ortholog(s) of this gene implicated in mal de Meleda and palmoplantar keratosis. Orthologous to human SLURP1 (secreted LY6/PLAUR domain containing 1). PHENOTYPE: Homozygous null mice develop palmoplantar keratoderma, decreased body weight, and neuromuscular and metabolic phenotypes. [provided by MGI curators] |