KIRREL3

KIRREL3 (also known as Nephrotic Syndrome 14 or NS14) is a gene in humans that encodes a protein of the immunoglobulin superfamily. This protein is involved in cell adhesion and intracellular signaling, particularly within the nervous system and kidneys.

Function:

The KIRREL3 protein plays a crucial role in synapse formation and maintenance in the brain. It mediates homophilic cell-cell interactions, meaning it binds to the same protein on adjacent cells. This interaction is important for the correct targeting and organization of neurons during brain development. In the kidneys, KIRREL3 is expressed in podocytes, specialized cells in the glomerulus responsible for filtering blood. It contributes to the integrity of the glomerular filtration barrier.

Clinical Significance:

Mutations in the KIRREL3 gene have been linked to several neurological disorders, including:

• Autism Spectrum Disorder (ASD): Certain genetic variants in KIRREL3 are associated with an increased risk of developing ASD.
• Intellectual Disability: Deleterious mutations can lead to intellectual disability.
• Schizophrenia: Some studies suggest a possible link between KIRREL3 and schizophrenia susceptibility.

Furthermore, mutations in KIRREL3 have been implicated in:

• Nephrotic Syndrome: Although originally named Nephrotic Syndrome 14, its direct role in this condition is not as firmly established as with other KIRREL family members.

Gene Location:

The KIRREL3 gene is located on human chromosome 2 at position 2q31.1.

Structure:

The KIRREL3 protein is a transmembrane protein containing multiple immunoglobulin-like domains. These domains facilitate cell adhesion through homophilic interactions.