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Hemidesmosomes and Gap Junctions
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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?

<p>Keratitis-ichthyosis deafness syndrome</p> Signup and view all the answers

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

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

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

<p>Severe skin conditions</p> Signup and view all the answers

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

<p>They have a crucial role in signal transduction.</p> Signup and view all the answers

What is the function of tight junctions in the skin?

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

What are the main proteins that make up tight junctions?

<p>Claudins and occludins.</p> Signup and view all the answers

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

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

What is one of the symptoms of NISCh syndrome?

<p>Life-threatening inflammation of the bile ducts.</p> Signup and view all the answers

What is another symptom of NISCh syndrome?

<p>Mild ichthyosis and frontal hair loss.</p> Signup and view all the answers

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