Primary Identifier | MGI:1928676 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 64704 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables peptidase activity. Involved in several processes, including cellular response to oxidative stress; negative regulation of type 2 mitophagy; and positive regulation of apoptotic process. Acts upstream of or within several processes, including adult walking behavior; intrinsic apoptotic signaling pathway; and nervous system development. Located in cytoplasmic side of plasma membrane and mitochondrion. Part of CD40 receptor complex. Is expressed in several structures, including gut; nervous system; reproductive system; thymus; and trachea. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 8; Parkinson's disease; and motor neuron disease. Orthologous to human HTRA2 (HtrA serine peptidase 2). PHENOTYPE: Homozygous mutations of this gene cause progressive parkinsonian symptoms, loss of striatal neurons, spleen and thymus atrophy, failure to thrive, and death before 40 days of age. [provided by MGI curators] |