Primary Identifier | MGI:2385906 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 234847 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable metalloendopeptidase activity. Acts upstream of or within anterograde axonal transport and mitochondrion organization. Located in mitochondrial inner membrane. Part of m-AAA complex. Is expressed in central nervous system; liver; olfactory epithelium; and retina nuclear layer. Used to study hereditary spastic paraplegia 7. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 7. Orthologous to human SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin). PHENOTYPE: Homozygous null mice exhibit impaired motor skills, putativley associated with axonal degeneration in the central and peripheral nervous systems. [provided by MGI curators] |