|  Help  |  About  |  Contact Us

Protein Coding Gene : Spg21 SPG21, maspardin

Primary Identifier  MGI:106403 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  27965
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable CD4 receptor binding activity. Acts upstream of or within several processes, including epidermal growth factor receptor signaling pathway; neuron development; and response to epidermal growth factor. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in cytosol and trans-Golgi network transport vesicle. Is expressed in extraembryonic component; head mesenchyme; tongue; and vertebral axis musculature. Used to study Mast syndrome. Human ortholog(s) of this gene implicated in Mast syndrome and hereditary spastic paraplegia. Orthologous to human SPG21 (SPG21 abhydrolase domain containing, maspardin).
PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, dragging of the hind limbs, attenuated growth and maturation of cortical neurons and abnormal cortical neuron axonal branching. [provided by MGI curators]
  • synonyms:
  • DNA segment, Chr 9, Wayne State University 18, expressed,
  • ACP33,
  • C78576,
  • MGI:2143397,
  • GL010,
  • D9Wsu18e,
  • expressed sequence C78576,
  • Spg21,
  • BM-019,
  • MGD-MRK-34096,
  • SPG21, maspardin

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 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

0 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