KIND1

KIND1 is a protein that in humans is encoded by the KIND1 gene. It is also known as Kindlin-1. Mutations in this gene are associated with Kindler syndrome, a rare autosomal recessive skin disorder.

Function

The KIND1 gene encodes a protein that is a member of the kindlin family. This protein plays a crucial role in the activation of integrins, which are important for cell adhesion and signal transduction. It is involved in the connection of the actin cytoskeleton to the extracellular matrix, a critical process for cell movement and proliferation.

Clinical significance

Mutations in the KIND1 gene are associated with Kindler syndrome, a rare autosomal recessive skin disorder. This syndrome is characterized by skin blistering, photosensitivity, progressive poikiloderma, and mucosal inflammation. The KIND1 protein is expressed in the skin and mucosal tissues, explaining the tissue specificity of the symptoms.

See also

• Kindler syndrome
• Integrin
• Actin cytoskeleton

External links

• NCBI Gene
• UniProt

KIND1 Resources
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