ARNT2
Function
Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475). Specifically recognizes the xenobiotic response element (XRE).
Involvement in disease
Webb-Dattani syndrome
WEDAS
A disorder characterized by postnatal microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
BHLHE1, KIAA0307, ARNT2, Aryl hydrocarbon receptor nuclear translocator 2, ARNT protein 2, Class E basic helix-loop-helix protein 1, bHLHe1