Where is the ELN gene located?

The ELN gene is precisely located on chromosome 7. Specifically, it is found in a particular region of chromosome 7 that is notably absent or deleted in individuals affected by Williams syndrome.

Understanding the ELN Gene

The ELN gene provides instructions for making a protein called elastin. Elastin is a crucial component of connective tissue, which provides structure and support to many parts of the body. It is particularly abundant in tissues that require elasticity, such as:

• Skin: Allowing it to stretch and return to its original shape.
• Blood vessels: Helping them expand and contract with each heartbeat.
• Lungs: Enabling them to inflate and deflate during breathing.
• Ligaments: Providing flexibility and stability to joints.

The integrity of elastin is vital for the normal functioning of these tissues, ensuring they can withstand repeated stretching and recoiling without damage.

The ELN Gene and Williams Syndrome

The deletion of the region on chromosome 7 containing the ELN gene is a hallmark characteristic of Williams syndrome. This developmental disorder is defined by a range of features, including:

• Mild to moderate intellectual disability or specific learning problems.
• Unique personality characteristics, often described as overly friendly.
• Distinctive facial features.
• Cardiovascular issues, particularly narrowing of the aorta or pulmonary arteries, due to impaired elastin formation in blood vessel walls.

The absence of a functional ELN gene due to this deletion directly contributes to many of the physical symptoms observed in individuals with Williams syndrome, especially those related to the heart and blood vessels.

Key Facts About the ELN Gene

Here's a quick overview of the ELN gene:

For more information on the ELN gene or Williams syndrome, you can refer to reputable sources such as the National Center for Biotechnology Information (NCBI) or MedlinePlus Genetics.