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Hemidesmosomes and Gap Junctions

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Questions and Answers

What is the consequence of genetic and acquired disorders that affect the hemidesmosome or the dermal molecules that connect to it?

Life-threatening epidermal fragility

What is the function of gap junctions in cells?

Allowing for the rapid exchange of small molecules up to 1kDa

What is the composition of a connexon?

6 connexins

What is the result of dominant mutations in connexin26, Cx26?

Keratitis-ichthyosis deafness syndrome Signup and view all the answers

What is the purpose of connexons aggregating into larger units known as gap junctional plaques?

Not specified in the text, but likely related to the function of gap junctions Signup and view all the answers

What is the effect of dysfunction of skin-expressed connexins?

Severe skin conditions Signup and view all the answers

What is the role of gap junctions containing Cx26 in the inner ear?

They have a crucial role in signal transduction. Signup and view all the answers

What is the function of tight junctions in the skin?

They maintain the skin barrier by closing the space between adjacent cells. Signup and view all the answers

What are the main proteins that make up tight junctions?

Claudins and occludins. Signup and view all the answers

What is the result of homozygous loss of function mutations in the gene coding for Claudin-1?

A rare disorder called Neonatal Ichthyosis with Sclerosing Cholangitis (NISCh). Signup and view all the answers

What is one of the symptoms of NISCh syndrome?

Life-threatening inflammation of the bile ducts. Signup and view all the answers

What is another symptom of NISCh syndrome?

Mild ichthyosis and frontal hair loss. Signup and view all the answers