LOC388813
loc388813
Description
LOC388813 is a gene that encodes a protein known as the "occludin-like protein 3" (OCLN3). It is a member of the occludin family of proteins, which play a crucial role in the maintenance of tight junctions between cells. Tight junctions are specialized structures that regulate the passage of ions, molecules, and water across cell membranes, thereby maintaining tissue integrity and compartmentalization.
OCLN3 is predominantly expressed in epithelial tissues, such as those lining the intestines, kidneys, and blood-brain barrier. It localizes to the tight junction complex, where it interacts with other occludin proteins, as well as with claudins and other scaffolding proteins. Together, these interactions form a tight seal that prevents the paracellular leakage of ions and molecules, preserving the specific characteristics of different compartments within the body.
Associated Diseases
Mutations in the LOC388813 gene have been linked to several diseases, including:
- Familial hypomagnesemia with secondary hypocalcemia (HOMG1): This is a rare genetic disorder characterized by low levels of magnesium and calcium in the blood. HOMG1 is caused by mutations in the LOC388813 gene that impair the function of OCLN3, leading to defects in tight junctions and impaired magnesium and calcium absorption in the intestines.
- Hypermagnesemia with secondary hypocalcemia (HOMG2): This is another rare genetic disorder that is characterized by high levels of magnesium and low levels of calcium in the blood. HOMG2 is caused by mutations in the LOC388813 gene that result in a gain-of-function of OCLN3, leading to increased magnesium absorption and decreased calcium excretion in the kidneys.
- Infantile nephrocalcinosis: This is a condition that affects infants and young children and is characterized by the accumulation of calcium salts in the kidneys. Mutations in the LOC388813 gene have been found in some cases of infantile nephrocalcinosis, suggesting a role for OCLN3 in the maintenance of kidney function.
- Nephrotic syndrome: This is a kidney disease that causes excessive protein loss in the urine. Mutations in the LOC388813 gene have been identified in some cases of nephrotic syndrome, indicating a possible involvement of OCLN3 in maintaining the integrity of the renal filtration barrier.
Did you Know ?
Mutations in the LOC388813 gene are estimated to affect approximately 1 in 200,000 people worldwide. HOMG1, the most common disease associated with LOC388813 mutations, affects approximately 1 in 500,000 people globally.
