LRRC50

LRRC50 (also known as DNAI2) is a protein that in humans is encoded by the LRRC50 gene. The LRRC50 gene is located on the short (p) arm of chromosome 16 at position 24.1.

Function

The LRRC50 protein is a part of the dynein arm, a structure found in the cilia and flagella. Cilia and flagella are hair-like structures that protrude from the surface of many types of cells. They are involved in cell movement, sensory perception, and several other cellular functions. The dynein arm is a crucial component of these structures, as it helps in their movement.

Clinical significance

Mutations in the LRRC50 gene are associated with primary ciliary dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The symptoms of PCD are due to abnormalities in the movement of cilia and flagella.

Genetics

The LRRC50 gene is inherited in an autosomal recessive manner. This means that an individual must have two copies of the mutated gene to exhibit the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the disorder.

Research

Research is ongoing to better understand the function of the LRRC50 protein and how mutations in the LRRC50 gene lead to primary ciliary dyskinesia. Understanding these mechanisms may lead to improved treatments for this disorder.

File:LRRC50 gene location on human chromosome 16.png

Location of the LRRC50 gene on chromosome 16

See also

• Dynein
• Cilia
• Flagella
• Primary ciliary dyskinesia
• Chromosome 16

External links

• LRRC50 at the Genetics Home Reference