Primary Identifier | MGI:98730 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 21816 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable identical protein binding activity and protein-glutamine gamma-glutamyltransferase activity. Acts upstream of or within animal organ morphogenesis. Located in adherens junction. Is expressed in alimentary system; epithelium; and skin. Used to study autosomal recessive congenital ichthyosis 1. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1. Orthologous to human TGM1 (transglutaminase 1). PHENOTYPE: Newborn mice homozygous for a knock-out allele are small and hypoactive and die within hours of birth displaying failure to suckle, progressive dehydration, and epidermal defects including a reddish, tight and wrinkled skin, hyperkeratosis, and impaired skin barrier function. [provided by MGI curators] |