Leucine-rich repeat-containing protein 50 is a protein

Protein

Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...

 that in humans is encoded by the LRRC50 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

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Function

Leucine-rich repeat-containing protein 50 is cilium

Cilium

A cilium is an organelle found in eukaryotic cells. Cilia are slender protuberances that project from the much larger cell body....

-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule

Microtubule

Microtubules are a component of the cytoskeleton. These rope-like polymers of tubulin can grow as long as 25 micrometers and are highly dynamic. The outer diameter of microtubule is about 25 nm. Microtubules are important for maintaining cell structure, providing platforms for intracellular...

-based cilia and actin-based brush border microvilli.

Clinical significance

Mutations in the LRRC50 gene are associated with primary ciliary dyskinesia

Primary ciliary dyskinesia

Primary ciliary dyskinesia , also known as immotile ciliary syndrome or Kartagener Syndrome ', is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube, and also of the flagella of sperm in...

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External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia