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Protein secretion

How do specific amino acid changes alter the function of proteins and cause disease when the protein is secreted from the cell? The authors’ studies of human collagen mutations are helping us understand this complex structure–function relationship

Figure 1 The extracellular matrix (ECM). While cells can be surrounded by an extracellular matrix, other cells form a single layer of cells that sit on top of the extracellular matrix. In this case the extracellular matrix can contain a special structure called the basement membrane. Collagen is a major component of the ECM but the matrix contains many different components.

Endoplasmic reticulum

Extracellular matrix

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