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