DST dystonin
Gene ID: 667, updated on 17-Mar-2024Gene type: protein coding
Also known as: DT; BPA; DMH; EBS3; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101
- See all available tests in GTR for this gene
- Go to complete Gene record for DST
- Go to Variation Viewer for DST variants
Summary
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency | See labs |
| Hereditary sensory and autonomic neuropathy type 6 | See labs |
| Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. GeneReviews: Not available |
Genomic context
- Location:
- 6p12.1
- Sequence:
- Chromosome: 6; NC_000006.12 (56457996..56954830, complement)
- Total number of exons:
- 109
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DST variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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