EBF3
Function
Transcriptional activator (PubMed:28017370, PubMed:28017372, PubMed:28017373). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3' (By similarity).
Involvement in disease
Hypotonia, ataxia, and delayed development syndrome
HADDS
An autosomal dominant neurodevelopmental syndrome characterized by global developmental delay, moderate to severe intellectual disability, cerebellar ataxia, hypotonia, speech delay, variable dysmorphic features, and genitourinary abnormalities including vesicoureteric reflux.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the COE family.
Tissue Specificity
Expressed in brain.
Cellular localization
- Nucleus
Alternative names
COE3, EBF3, Transcription factor COE3, Early B-cell factor 3, Olf-1/EBF-like 2, EBF-3, O/E-2, OE-2