Primary Identifier | MGI:1343498 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 13608 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling receptor activity. Involved in cytokine-mediated signaling pathway and positive regulation of canonical NF-kappaB signal transduction. Acts upstream of or within several processes, including hair follicle development; positive regulation of non-canonical NF-kappaB signal transduction; and salivary gland cavitation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including embryo ectoderm; integumental system; male accessory gland; sensory organ; and tooth. Used to study hypohidrotic ectodermal dysplasia. Human ortholog(s) of this gene implicated in ectodermal dysplasia 10A and ectodermal dysplasia 10B. Orthologous to human EDAR (ectodysplasin A receptor). PHENOTYPE: Mutations in this gene produce abnormalities of the hair,teeth and some exocrine glands. [provided by MGI curators] |