FOXJ1

Expressed in developing lung, kidney and central nervous system.

Transcription factor specifically required for the formation of motile cilia (PubMed:31630787). Acts by activating transcription of genes that mediate assembly of motile cilia, such as CFAP157. Binds the DNA consensus sequences 5'-HWDTGTTTGTTTA-3' or 5'-KTTTGTTGTTKTW-3' (where H is not G, W is A or T, D is not C, and K is G or T). Activates the transcription of a variety of ciliary proteins in the developing brain and lung.

Allergic rhinitis

ALRH

A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure.

None

Disease susceptibility may be associated with variants affecting the gene represented in this entry.

Ciliary dyskinesia, primary, 43

CILD43

A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the FOXJ1 family.

Testis, oviduct, lung and brain cortex.

• Nucleus

FKHL13, HFH4, FOXJ1, Forkhead box protein J1, Forkhead-related protein FKHL13, Hepatocyte nuclear factor 3 forkhead homolog 4, HFH-4

• entrezGene:2302
• omim:602291
• swissprot:Q92949

Proteins

Developmental Biology

45247Da