Dystonin (DST), also known as bullous pemphigoid antigen 1 (BPAG1), isoforms 1/2/3/4/5/8, is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

that in humans is encoded by the ''DST''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

. 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 Actin is a family of globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in muscle fibrils. It is found in essentially all eukaryotic cells, where it may be present at a concentration of over ...

cytoskeleton The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane and is compos ...

, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing

intermediate filament Intermediate filaments (IFs) are cytoskeletal structural components found in the cells of vertebrates, and many invertebrates. Homologues of the IF protein have been noted in an invertebrate, the cephalochordate ''Branchiostoma''. Intermedia ...

s to

hemidesmosome Hemidesmosomes are very small stud-like structures found in keratinocytes of the epidermis of skin that attach to the extracellular matrix. They are similar in form to desmosomes when visualized by electron microscopy, however, desmosomes attach t ...

s. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration.

Interactions

Dystonin has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...

with collagen, type XVII, alpha 1,

DCTN1 Dynactin subunit 1 is a protein that in humans is encoded by the ''DCTN1'' gene. Function This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 23 subunits (11 individual proteins ranging in size from 22 to ...

MAP1B Microtubule-associated protein 1B is a protein that in humans is encoded by the ''MAP1B'' gene. Function This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be invol ...

and erbin.

Loss of function in neurological disease

Several ''Dst'' mutant mouse lines have been described, all of which share the common feature of having peripheral sensory neuron degeneration. In humans, loss of dystonin function can cause

hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. They are less common than Charcot-Marie-Tooth disease. Classif ...

type VI and axonal Charcot-Marie-Tooth disease. In both human diseases, pathology is attributable specifically to the loss of the dystonin-a2/b2 protein isoform, which plays a role in neuronal autophagy.

Interactions

Loss of function in neurological disease

See also

References

Further reading