LRRC50: Difference between revisions

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

Latest revision as of 20:49, 30 December 2024

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[edit]

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[edit]

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[edit]

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.

References[edit]

External Links[edit]

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-'''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.
+{{Infobox gene
+| name = LRRC50
+| image = <!-- Image removed -->
+| caption = <!-- Image caption removed -->
+| HGNCid = 19164
+| symbol = LRRC50
+| altSymbols = CILD13, DNAAF1
+| EntrezGene = 79966
+| OMIM = 613190
+| RefSeq = NM_178452
+| UniProt = Q8N3Z6
+| chromosome = 16
+| arm = q
+| band = 24.1
+}}
+'''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 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.
+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 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 ==
+== Clinical Significance ==
-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.
+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 ==
-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.
+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.
-[[File:LRRC50 gene location on human chromosome 16.png|thumb|right|300px|Location of the LRRC50 gene on chromosome 16]]
-== See also ==
+== See Also ==
-* [[Dynein]]
 * [[Cilia]]
 * [[Flagella]]
 * [[Primary ciliary dyskinesia]]
-* [[Chromosome 16]]
+* [[Dynein]]
 == References ==
-<references />
+<references/>
-== External links ==
+== External Links ==
-* [https://ghr.nlm.nih.gov/gene/LRRC50 LRRC50] at the Genetics Home Reference
+* [https://www.ncbi.nlm.nih.gov/gene/79966 LRRC50 Gene - NCBI]
+* [https://www.omim.org/entry/613190 OMIM Entry - LRRC50]
-[[Category:Human proteins]]
 [[Category:Genes on human chromosome 16]]
-[[Category:Genetic disorders]]
+[[Category:Proteins]]
-{{medicine-stub}}
+[[Category:Primary ciliary dyskinesia]]