IFT80

IFT80

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

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

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 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 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.

See also

• Ciliopathy
• Intraflagellar transport
• Cilia
• Jeune syndrome

References

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