IFT80: Difference between revisions

IFT80
Symbol	IFT80
HGNC ID	6150
Alternative symbols	–
Entrez Gene	80184
OMIM	611177
RefSeq	NM_025103
UniProt	Q9P2H3
Chromosome	3q25.33
Locus supplementary data	–

Latest revision as of 20:31, 30 December 2024

IFT80 is a gene that encodes a protein involved in the process of intraflagellar transport (IFT), which is essential for the formation and maintenance of cilia and flagella. Cilia are hair-like structures that protrude from the surface of many eukaryotic cells and are involved in various cellular processes, including cell signaling, movement, and sensory perception.

Function[edit]

The IFT80 protein is a component of the IFT complex B, which is crucial for the anterograde transport of proteins along the ciliary axoneme. This transport is necessary for the assembly and maintenance of cilia. Mutations in the IFT80 gene can lead to defects in ciliary function, resulting in a group of disorders known as ciliopathies.

Clinical significance[edit]

Mutations in the IFT80 gene have been associated with Jeune asphyxiating thoracic dystrophy (JATD), a rare genetic disorder characterized by a narrow chest, short ribs, and respiratory insufficiency. JATD is part of a spectrum of disorders known as skeletal ciliopathies, which also includes Ellis-van Creveld syndrome and Sensenbrenner syndrome.

Research[edit]

Research on IFT80 and its role in ciliogenesis is ongoing, with studies focusing on understanding the molecular mechanisms underlying ciliopathies and developing potential therapeutic strategies. Animal models, such as zebrafish and mouse models, are commonly used to study the function of IFT80 and its involvement in ciliary assembly and function.

References[edit]

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-'''IFT80''' is a protein that in humans is encoded by the IFT80 gene. It is a component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of [[cilia]] and [[flagella]]. Mutations in this gene are associated with [[Jeune asphyxiating thoracic dystrophy]] and short-rib polydactyly syndrome.
+{{Infobox gene
+| name = IFT80
+| HGNCid = 6150
+| symbol = IFT80
+| alt_symbols =
+| EntrezGene = 80184
+| OMIM = 611177
+| RefSeq = NM_025103
+| UniProt = Q9P2H3
+| chromosome = 3
+| arm = q
+| band = 25.33
+}}
+'''IFT80''' is a gene that encodes a protein involved in the process of [[intraflagellar transport]] (IFT), which is essential for the formation and maintenance of [[cilia]] and [[flagella]]. Cilia are hair-like structures that protrude from the surface of many [[eukaryotic cells]] and are involved in various cellular processes, including [[cell signaling]], [[movement]], and [[sensory perception]].
 == Function ==
-IFT80 is a core component of the IFT complex B, which is involved in the anterograde transport of ciliary components from the base to the tip of the cilia. This transport is essential for the development and maintenance of cilia, which are small, hair-like structures present on the surface of all mammalian cells. Cilia play a crucial role in several cellular processes, including cell movement, signal transduction, and cell division.
+The IFT80 protein is a component of the IFT complex B, which is crucial for the anterograde transport of proteins along the ciliary axoneme. This transport is necessary for the assembly and maintenance of cilia. Mutations in the IFT80 gene can lead to defects in ciliary function, resulting in a group of disorders known as [[ciliopathies]].
 == Clinical significance ==
-Mutations in the IFT80 gene have been associated with several ciliopathies, which are diseases caused by defects in cilia. These include Jeune asphyxiating thoracic dystrophy, a rare genetic disorder characterized by a small chest, short ribs, and bone abnormalities, and short-rib polydactyly syndrome, a condition characterized by short ribs, polydactyly (extra fingers or toes), and other skeletal abnormalities.
+Mutations in the IFT80 gene have been associated with [[Jeune asphyxiating thoracic dystrophy]] (JATD), a rare genetic disorder characterized by a narrow chest, short ribs, and respiratory insufficiency. JATD is part of a spectrum of disorders known as [[skeletal ciliopathies]], which also includes [[Ellis-van Creveld syndrome]] and [[Sensenbrenner syndrome]].
 == Research ==
-Research on IFT80 has focused on understanding its role in cilia formation and function, as well as its involvement in ciliopathies. Studies have shown that mutations in the IFT80 gene can disrupt cilia formation and function, leading to the development of ciliopathies. Further research is needed to fully understand the mechanisms by which IFT80 mutations cause these diseases.
+Research on IFT80 and its role in ciliogenesis is ongoing, with studies focusing on understanding the molecular mechanisms underlying ciliopathies and developing potential therapeutic strategies. Animal models, such as [[zebrafish]] and [[mouse]] models, are commonly used to study the function of IFT80 and its involvement in ciliary assembly and function.
-[[File:IFT80 protein structure.jpg|thumb|right|300px|IFT80 protein structure. Image from Wikimedia Commons.]]
 == See also ==
+* [[Ciliopathy]]
 * [[Intraflagellar transport]]
-* [[Ciliopathy]]
+* [[Cilia]]
-* [[Jeune asphyxiating thoracic dystrophy]]
+* [[Jeune syndrome]]
-* [[Short-rib polydactyly syndrome]]
 == References ==
 <references />
+{{Ciliopathy}}
+{{Genes on human chromosome 3}}
+[[Category:Genes on human chromosome 3]]
+[[Category:Ciliopathy]]
 [[Category:Human proteins]]
-[[Category:Ciliopathy]]
-[[Category:Genes]]
-{{medicine-stub}}