GNA11 : G protein subunit alpha 11

Description:

The human genome holds a vast array of genes, each playing a crucial role in our biology. Among these genes lies the GNA11 gene, a master orchestrator of cellular processes. This gene provides the blueprint for the alpha subunit of a protein complex called a guanine nucleotide-binding protein (G protein), specifically the Gα₁₁ subunit of the G₁₁ protein.

G proteins act as molecular switches in a complex signal transduction pathway, a network of signaling events that direct a myriad of cellular functions. G₁₁ plays a pivotal role in maintaining calcium balance in the body by working in tandem with the calcium-sensing receptor (CaSR). When blood calcium levels reach a certain threshold, CaSR stimulates Gα₁₁, triggering a cascade of events that halt the release of parathyroid hormone and block calcium reabsorption in the kidneys.

Beyond its role in calcium regulation, G₁₁ also influences cell growth, division, and apoptosis (controlled cell death) in various tissues, including the eyes, skin, heart, and brain. Its multifaceted functions make it a key player in maintaining proper cellular homeostasis and overall health.

Associated Diseases:

Mutations in the GNA11 gene have been linked to several diseases, including:

• Hypocalcemia: Insufficient levels of calcium in the blood, often caused by impaired parathyroid hormone secretion.
• Hypercalcemia: Excessive levels of calcium in the blood, resulting from disrupted calcium regulation.
• Albright‘s Hereditary Osteodystrophy: A rare genetic disorder characterized by hypocalcemia, skeletal abnormalities, and impaired kidney function.
• Neonatal Severe Hyperparathyroidism: A life-threatening condition in newborns caused by overactive parathyroid glands, leading to hypercalcemia.

Did you Know ?

Research studies have shown that GNA11 mutations account for approximately 5% of cases of familial hypocalcemia, a genetic form of the disorder.