Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DST contributors: mct - updated : 24-04-2012
HGNC name dystonin
HGNC id 1090
ASSOCIATED DISORDERS
corresponding disease(s) EBS6
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
         
-
Susceptibility
Variant & Polymorphism
Candidate gene
  • coding a glycoprotein that serves as an autoantigen in the blistering disease bullous pemphigoid
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice defective for this protein have sensory neurodegeneration
  • protein level of BPAG1-b was reduced in muscle tissues from plectin-null mutant mice versus wild-type mice