What does the JAG1 gene do?

The JAG1 gene provides instructions for making a protein called Jagged-1, which is involved in an important pathway by which cells can signal to each other. The Jagged-1 protein is inserted into the membranes of certain cells.

Where is the JAG1 gene?

human chromosome 20
Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene. JAG1 has also been designated as CD339 (cluster of differentiation 339).

What type of mutation is Alagille syndrome?

Alagille syndrome is caused by mutations in one of two genes – the JAG1 gene or the NOTCH2 gene. Mutations of the JAG1 gene have been identified in more than 88 percent of cases. Mutations in the NOTCH2 gene account for less than 1 percent of cases. These mutations are inherited in an autosomal dominant pattern.

Which genetic disorder is due to a deletion on chromosome 7?

Williams syndrome is a rare genetic disorder that is caused by the deletion of genetic material on chromosome 7.

Which human disorder is being treated with gene therapy?

Gene therapy holds promise for treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS. Researchers are still studying how and when to use gene therapy.

Is Alagille syndrome detectable prior to birth?

Although Alagille syndrome is present from birth, it is often not diagnosed until later in childhood, particularly in less severe cases with few symptoms. To diagnose Alagille syndrome, a clinician will typically conduct a physical examination and order some or all of the following tests: blood test. urinalysis.

How long do kids with Alagille syndrome live?

It damages your liver tissues, and ultimately can cause your liver to fail. As treatment options increase, people with this condition live longer, more comfortable lives, especially if the condition is discovered early. About 3 in 4 people diagnosed with the syndrome in childhood live to at least age 20.

What is Monosomy 7 called?

Abstract. Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis, peripheral cytopenia, and dysplastic changes in the bone marrow. Monosomy 7 or partial loss of 7q is a common cytogenetic abnormality in MDS patients and is associated with poor prognosis.