VLDLR : very low density lipoprotein receptor

The Vital Role of the VLDL Receptor Gene in Brain Development

Description

The VLDLR gene carries the genetic blueprint for creating a protein called the very low density lipoprotein (VLDL) receptor. This crucial protein operates across numerous organs and tissues, including the heart, skeletal muscles, adipose tissue, and kidneys. However, its role in the developing brain stands out as particularly significant.

Associated Diseases

Mutations in the VLDLR gene can lead to various disorders, including:

• Reelinopathy: Impaired brain development due to reduced reelin signaling.
• Cerebral Palsy: A group of disorders affecting movement and coordination due to abnormal brain development.
• Joubert Syndrome: A rare genetic disorder characterized by brain malformations and developmental delays.

Did you Know ?

Studies have shown that mutations in the VLDLR gene account for approximately 40% of cases of reelinopathy, highlighting its crucial role in this brain development disorder.