What disease is caused by a mutation of spectrin?

What disease is caused by a mutation of spectrin?

Mutations of spectrin lead to various human diseases such as hereditary hemolytic anemia, type 5 spinocerebellar ataxia, cancer, as well as others.

What does spectrin do in red blood cells?

4.32. Spectrin is the main component of the cell membrane skeleton. It was first identified in erythrocytes, where it forms a filamentous network required for red blood cells to maintain their shape and elasticity (Marchesi and Steers, 1968).

What is spectrin deficiency?

Spectrin deficiency is the most common deficiency found in HS. It is heterogeneous in terms of clinical expression, inheritance (dominant or recessive) and underlying genetic defects (related to alpha- or beta-spectrin gene defects or secondary to ankyrin gene defects).

Is spectrin a fibrous protein?

spec·trin. A fibrous protein that links with actin filaments and is the major component of the sturdy cytoskeleton that underlies the plasma membrane of red blood cells.

Where is spectrin found?

erythrocytes
βI-spectrin is primarily found in erythrocytes, striated muscle, and a subset of neurons. βIII-spectrin is expressed at highest levels in the cerebellum, where it is enriched in dendrites of Purkinje neurons, but it is also expressed in other areas of the brain (21).

Is spectrin fibrous or globular?

The primary component of the erythrocyte cytoskeleton is spectrin, a long fibrous protein. Two dimeric subunits of spectrin, each composed of an α and β polypeptide chain, associate to form head-to-head tetramers, which are 200 nm long.

Is spectrin a peripheral protein?

Earlier work by Marchesi and Steers (1968) had shown that the protein spectrin was associated with the membranes of red blood cells. It could be isolated by mild treatments and behaved like a water-soluble protein. Some researchers thought spectrin was typical of membrane proteins in general.

Is spectrin a actin?

Spectrin is a cytoskeletal protein that lines the intracellular side of the plasma membrane in eukaryotic cells. The hexagonal arrangements are formed by tetramers of spectrin subunits associating with short actin filaments at either end of the tetramer.

What is spectrin made of?

Spectrin is a large, cytoskeletal, and heterodimeric protein composed of modular structure of α and β subunits, it typically contains 106 contiguous amino acid sequence motifs called “spectrin repeats”. Spectrin is crucial for maintaining the stability and structure of the cell membrane and the shape of a cell.

Is spectrin an integral membrane protein?

Some researchers thought spectrin was typical of membrane proteins in general. Singer’s model, however, proposed that integral membrane proteins, which passed through the membrane, would be insoluble in water. In contrast, proteins like spectrin belonged to a distinct category.