Search for a gene
DST - dystonin
- Synonym(s) : BP240, BPA, CATX-15, FLJ13425, FLJ21489, FLJ30627, FLJ32235, KIAA0728, MACF2
- Previous symbols and names : 'bullous pemphigoid antigen 1, 230/240kDa', BPAG1, Bullous pemphigoid antigen 1, 230/240kDa
- Type : gene with protein product
- Chromosomal location : 6p12.1
- OMIM: 113810
- HGNC: 1090
- UniProtKB: Q03001
- Genatlas: DST
- GenCC: DST
- Ensembl: ENSG00000151914
- IUPHAR-DB: -
- Reactome: Q03001
- LOVD: DST
Diseases list
- Disease-causing germline mutation(s) in Epidermolysis bullosa simplex due to BP230 deficiency
ORPHA:412181 
- Disease-causing germline mutation(s) in Hereditary sensory and autonomic neuropathy type 6
ORPHA:314381
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.