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Protein Coding Gene : Dst dystonin

Primary Identifier  MGI:104627 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  13518
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Enables protein homodimerization activity. Involved in cytoskeleton organization and retrograde axonal transport. Acts upstream of or within axonogenesis. Located in several cellular components, including cytoskeleton; endoplasmic reticulum; and sarcomere. Is active in type III intermediate filament. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and retina nuclear layer. Used to study hereditary sensory and autonomic neuropathy type 6 and hereditary sensory neuropathy. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and hereditary sensory and autonomic neuropathy type 6. Orthologous to human DST (dystonin).
PHENOTYPE: Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan. [provided by MGI curators]
  • synonyms:
  • MGI:3580062,
  • MGD-MRK-1199,
  • athetoid,
  • MGD-MRK-26064,
  • MGI:1916744,
  • neuroscience mutagenesis facility, 339,
  • neuroscience mutagenesis facility, 203,
  • MGI:2444206,
  • AW554249,
  • 2310001O04Rik,
  • MGD-MRK-1612,
  • nmf203,
  • Macf2,
  • MGD-MRK-1613,
  • Bpag1,
  • nmf339,
  • ah,
  • MGD-MRK-8910,
  • expressed sequence AW554249,
  • bullous pemphigoid antigen,
  • MGI:2138613,
  • bullous pemphigoid antigen 1, 230 kDa,
  • dystonia musculorum,
  • RIKEN cDNA A830042E19 gene,
  • Bpag,
  • bullous pemphigoid antigen 1,
  • mKIAA0728,
  • dystonin,
  • BPAG1-n,
  • dt,
  • RIKEN cDNA 2310001O04 gene,
  • A830042E19Rik,
  • MGI:2681949,
  • BPAG1,
  • Dst

Features --> Cross References

Genome

Sequence Feature Displayer

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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

12 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