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 7.1.0) Enables endopeptidase activator activity. Involved in 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] |