EAF1
Description
The EAF1 (ELL associated factor 1) is a protein-coding gene located on chromosome 3.
ELL-associated factor 1 is a protein that, in humans, is encoded by the EAF1 gene. It is part of the EAF family of proteins.
EAF1 acts as a transcriptional transactivator of ELL and ELL2 elongation activities.
EAF1 is also known as -.
Associated Diseases
- lysosomal storage disease
- X-linked dystonia-parkinsonism
- spinocerebellar ataxia type 15/16
- X-linked parkinsonism-spasticity syndrome
- spinocerebellar ataxia type 20
- torsion dystonia 2
- isolated dystonia
- optic atrophy 2
- chorea, benign familial
- X-linked non progressive cerebellar ataxia
- tremor, hereditary essential, 6
