FOXJ1

From WikiMD's medical encyclopedia


FOXJ1
Symbol FOXJ1
HGNC ID 3803
Alternative symbols
Entrez Gene 2302
OMIM 602291
RefSeq NM_003234
UniProt Q92949
Chromosome 17q25
Locus supplementary data


FOXJ1 (Forkhead Box J1) is a gene that encodes a member of the forkhead family of transcription factors. These proteins are characterized by a distinct forkhead domain and are involved in a variety of biological processes, including the regulation of gene expression during development.

Function

FOXJ1 is primarily expressed in ciliated cells and plays a crucial role in the development and function of motile cilia. It is essential for the differentiation of ciliated cells and the formation of cilia, which are hair-like structures that extend from the surface of many cell types and are involved in movement and signaling.

Clinical Significance

Mutations or dysregulation of FOXJ1 can lead to ciliopathies, a group of disorders caused by defects in the structure or function of cilia. These conditions can affect multiple organ systems and lead to a variety of symptoms, depending on the specific cilia affected.

Research

Studies have shown that FOXJ1 is involved in the regulation of immune response and inflammation. It has been implicated in the pathogenesis of several diseases, including asthma and chronic obstructive pulmonary disease (COPD), where ciliary dysfunction plays a role in disease progression.

See Also

References



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Contributors: Prab R. Tumpati, MD