Primary Identifier | MGI:1335092 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 12365 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cysteine-type endopeptidase activity. Predicted to be involved in positive regulation of neuron apoptotic process. Predicted to act upstream of or within proteolysis. Is active in cornified envelope. Is expressed in several structures, including autopod and skin. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis. Orthologous to human CASP14 (caspase 14). PHENOTYPE: Mice homozygous for a null allele exhibit impaired skin barrier function, skin dehydration and increased damage in response to UVB irradiation. [provided by MGI curators] |