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Protein Coding Gene : Spast spastin

Primary Identifier  MGI:1858896 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  50850
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable ATP hydrolysis activity; microtubule severing ATPase activity; and tubulin binding activity. Involved in anterograde axonal transport and axonal transport of mitochondrion. Acts upstream of or within microtubule severing. Located in microtubule cytoskeleton and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study hereditary spastic paraplegia 4. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 4. Orthologous to human SPAST (spastin).
PHENOTYPE: Homozygous inactivation of this gene results in sterility and progressive axonopathy with focal axonal swellings and late onset gait abnormalities. Mice homozygous for a knock-out allele exhibit male sterility, decreased testis weight, azoospermia, defects in male meiosis, acrosome formation and manchette structure, and loss of spermatid nuclear integrity. [provided by MGI curators]
  • synonyms:
  • mKIAA1083,
  • spastic paraplegia 4 homolog (human),
  • Spg4,
  • Spast,
  • spastin

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

7 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