Where is the JAK2 gene located?

The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.

What triggers JAK2 mutation?

The JAK2 V617F mutation is a result of a single change in the DNA nucleotide base pair that causes a substitution of a valine amino acid for a phenylalanine amino acid at the 617 position on exon 14 within the JAK2 kinase regulatory domain.

What does it mean if you have the JAK2 gene?

A gene that makes a protein that sends signals in cells to promote cell growth and helps control the number of red blood cells, white blood cells, and platelets that are made in the bone marrow.

What does JAK2 positive mean?

A positive JAK2 V617F mutation test, along with other supporting clinical signs, means it is likely that the person tested has an MPN. Other testing, such as a bone marrow biopsy, may need to be performed to determine which MPN the person has and to evaluate its severity.

Are there any diseases associated with the JAK2 gene?

Somatic JAK2 gene mutations are also associated with several related conditions. The V617F mutation is occasionally found in people with cancer of blood-forming cells (leukemia) or other bone marrow disorders.

How is the PARK2 gene linked to Parkinson’s disease?

PARK2: The PARK2 gene makes the protein parkin, which normally helps cells break down and recycle proteins. PARK7: Mutations in this gene cause a rare form of early-onset Parkinson’s disease. The PARK7 gene makes the protein DJ-1, which protects against mitochondrial stress.

How is the SNCA gene linked to Parkinson’s disease?

SNCA: SNCA makes the protein alpha-synuclein. In brain cells of individuals with Parkinson’s disease, this protein gathers in clumps called Lewy bodies. Mutations in the SNCA gene occur in early-onset Parkinson’s disease. PARK2: The PARK2 gene makes the protein parkin, which normally helps cells break down and recycle proteins.

Where are JAK2 cells located in the bone marrow?

The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells. These stem cells are located within the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets.