RNF220

E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling (PubMed:25266658, PubMed:33964137). Plays a critical role in the regulation of nuclear lamina (PubMed:33964137).

Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy

HLD23

An autosomal recessive neurodegenerative disorder with systemic manifestations. Affected individuals show delayed motor development and ataxic gait in early childhood that progresses to spastic paraplegia with loss of ambulation in the first decades of life. Additional features include progressive sensorineural hearing loss, hepatic dysfunction, and dilated cardiomyopathy. Death occurs in the first or second decades. Brain imaging shows hypomyelination, diffuse white matter abnormalities, and thin corpus callosum.

None

The disease is caused by variants affecting the gene represented in this entry.

Protein modification; protein ubiquitination.

Auto-ubiquitinated; leads to proteasomal degradation.

Ubiquitously expressed. Abundant in brain and spinal cord, particularly in the cerebellum and cerebral cortex. In fetal tissues expressed in the cerebellum, spinal cord and cortex.

• Cytoplasm
• Nucleus

C1orf164, RNF220, E3 ubiquitin-protein ligase RNF220, RING finger protein 220, RING-type E3 ubiquitin transferase RNF220

• entrezGene:55182
• swissprot:Q5VTB9

Proteins

Neuroscience

62765Da