LRRC50

LRRC50

Symbol	LRRC50
HGNC ID	19164
Alternative symbols	–
Entrez Gene	79966
OMIM	613190
RefSeq	NM_178452
UniProt	Q8N3Z6
Chromosome	16q24.1
Locus supplementary data	–

LRRC50 (Leucine Rich Repeat Containing 50) is a gene that encodes a protein involved in the function of cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia (PCD), a condition characterized by chronic respiratory tract infections, abnormal sperm motility, and other symptoms due to defective ciliary function.

Function

The LRRC50 protein is a component of the axoneme, the central shaft of cilia and flagella, which is crucial for their motility. It is involved in the assembly and stability of the dynein arms, which are motor protein complexes that generate the force required for ciliary and flagellar movement.

Clinical Significance

Mutations in the LRRC50 gene can lead to primary ciliary dyskinesia (PCD), a rare genetic disorder. PCD is characterized by chronic sinusitis, bronchiectasis, and infertility due to impaired ciliary function. The condition is inherited in an autosomal recessive manner, meaning that two copies of the mutated gene are required for the manifestation of the disease.

Research

Studies have shown that LRRC50 is essential for the proper assembly of the dynein arms in cilia and flagella. Research continues to explore the exact mechanisms by which LRRC50 mutations lead to the clinical manifestations of PCD, as well as potential therapeutic approaches to manage or correct the underlying genetic defects.

See Also

• Cilia
• Flagella
• Primary ciliary dyskinesia
• Dynein

References

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External Links

• LRRC50 Gene - NCBI
• OMIM Entry - LRRC50