ATXN3L
Description
The ATXN3L (ataxin 3 like) is a protein-coding gene located on chromosome X.
ATXN3L is a deubiquitinating enzyme that can cleave both 'Lys-48'-linked and 'Lys-63'-linked poly-ubiquitin chains in laboratory settings. This enzyme also plays a role in regulating the stability of the KLF5 transcription factor by removing ubiquitin tags.
ATXN3L is also known as MJDL.
Associated Diseases
- ovarian cancer
- low grade glioma
- Huntington disease
- amyotrophic lateral sclerosis type 15
- progressive non-fluent aphasia
- pentosuria
- cancer
- breast cancer
