UBE4A
Domain
The U-box domain is required for the ubiquitin protein ligase activity.
Function
Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates.
Involvement in disease
Neurodevelopmental disorder with hypotonia and gross motor and speech delay
NEDHMS
An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, axial hypotonia, limited or absent ability to walk, impaired intellectual development, and poor or absent speech. Additional features may include seizures, behavioral problems, distal skeletal anomalies, and facial dysmorphism.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Sequence Similarities
Belongs to the ubiquitin conjugation factor E4 family.
Cellular localization
- Cytoplasm
Alternative names
KIAA0126, UBE4A, Ubiquitin conjugation factor E4 A, RING-type E3 ubiquitin transferase E4 A