Primary Identifier | MGI:1195272 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 13607 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cytokine activity; death receptor agonist activity; and death receptor binding activity. Acts upstream of or within several processes, including hair follicle placode formation; positive regulation of signal transduction; and trachea gland development. Located in apical part of cell; endoplasmic reticulum membrane; and plasma membrane. Is expressed in several structures, including embryo ectoderm; exocrine system; facial prominence; nasal gland epithelium; and oral region epithelium. Used to study hypohidrotic ectodermal dysplasia. Human ortholog(s) of this gene implicated in ectodermal dysplasia 1 and tooth agenesis. Orthologous to human EDA (ectodysplasin A). PHENOTYPE: Mutant hemizygous males and homozygous females have defects in ectodermal derivatives with absence of guard hairs, zigzags and tail hair, reduced eyelid opening, fewer vibrissae and defects of teeth and exocrine glands. Homozygous females are often sterile. [provided by MGI curators] |