Pick

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Pick
Pick
Properties of human protein
Mass / length primary structure 4684 AA, 500 kDa
Secondary to quaternary structure Homodimer or homotetramer
Isoforms 9
Identifier
Gene names PLEC PLEC1
External IDs

Plektin (engl. Plectin short PCN or PLTN ), also plectin 1 or hemidesmosomal protein 1 (HD1), is an in eukaryotes occurring protein . It can be detected in the cytoplasm of almost all eukaryotic cells, but in large quantities mainly in muscle and heart muscle cells, skin cells, nerve cells and cells of the placenta. Plectin is a 500 kDa protein that belongs to the plakin family of proteins . In humans, it is encoded by the plectin gene (PLEC, PLEC1) and is on the long arm of chromosome 8 located (8q24.3).

Function and structure

The protein plectin has many functions. It is primarily used to cross -link intermediate filaments , but also actin filaments and microtubules, and has binding sites for various transmembrane proteins that are part of cell-cell connections . These include focal adhesions , desmosomes and hemidesmosomes as well as costamers and Z-slices in skeletal muscle cells and glossy strips in heart muscle cells . It is therefore an important part of the cytoskeleton and influences its stability and dynamics.

It has a multi-domain structure, which is responsible for the many ways other proteins can bind. In addition to the proteins of the cytoskeleton, these are also proteins of the nuclear envelope and various protein kinases .

Medical importance

Mutations in the PLEC gene can lead to different phenotypes of epidermolysis bullosa simplex (epidermolysis bullosa simplex with muscular dystrophy , epidermolysis bullosa simplex with pyloric atresia and epidermolysis bullosa simplex type Ogna) as well as girdle dystrophy 2Q (LGMDDystrophie 2Q ).

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