Primary Identifier | MGI:1858213 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 53895 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase binding activity; identical protein binding activity; and peptidase activity. Predicted to be involved in membrane protein proteolysis and protein quality control for misfolded or incompletely synthesized proteins. Located in mitochondrion. Is expressed in several structures, including early conceptus; heart; liver; pancreas; and placenta. Used to study Perrault syndrome. Human ortholog(s) of this gene implicated in Perrault syndrome. Orthologous to human CLPP (caseinolytic mitochondrial matrix peptidase proteolytic subunit). PHENOTYPE: Mice homozygous for a gene trap allele exhibit infertility, hearing loss, growth retardation, reduced activity, T cell activation, increased mitochondrial DNA and premature death. [provided by MGI curators] |