Species Human Entrez 667 | Human Mouse Ensembl ENSG00000151914 | |
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Aliases DST, BP240, BPA, BPAG1, CATX-15, CATX15, D6S1101, DMH, DT, EBSB2, HSAN6, MACF2, dystonin External IDs HomoloGene: 134369 GeneCards: DST | ||
Bullous pemphigoid antigen 1, isoforms 1/2/3/4/5/8 is a protein that in humans is encoded by the DST gene.
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 known 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.
Interactions
Dystonin has been shown to interact with Collagen, type XVII, alpha 1, DCTN1 and Erbin.