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Protein Coding Gene : Spg7 SPG7, paraplegin matrix AAA peptidase subunit

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 7.1.0)

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]
  • synonyms:
  • expressed sequence AI452278,
  • Cmar,
  • expressed sequence AU015315,
  • MGI:2142555,
  • AU015315,
  • Spg7,
  • paraplegin,
  • MGI:2142674,
  • SPG7, paraplegin matrix AAA peptidase subunit,
  • MGI:1927352,
  • AI452278,
  • cell matrix adhesion regulator,
  • spastic paraplegia 7 homolog (human)

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

5 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For