Primary Identifier | MGI:1913590 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 66340 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables endopeptidase activator activity. Involved in positive regulation of endopeptidase activity and protein processing. Acts upstream of or within Notch receptor processing. Part of gamma-secretase complex. Is expressed in early tubule; female associated reproductive structure; male associated reproductive structure; ovary; and testis. Human ortholog(s) of this gene implicated in hidradenitis suppurativa. Orthologous to human PSENEN (presenilin enhancer, gamma-secretase subunit). PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators] |