RNF220 Chromosome 1
Ring finger protein 220
Upload your DNA to see your personal genotypes for variants in RNF220.
What This Gene Does
Enables beta-catenin binding activity. Involved in positive regulation of canonical Wnt signaling pathway. Acts upstream of or within positive regulation of DNA-binding transcription factor activity and protein monoubiquitination. Located in nuclear lamina and nucleoplasm. Part of protein-containing complex. Implicated in hypomyelinating leukodystrophy 23. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ring finger proteins|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000187147
Associated Conditions (7)
Leukodystrophy
hypomyelinating
23
with ataxia
deafness
liver dysfunction
and dilated cardiomyopathy
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1010750511 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 23 |
| RS780921270 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 23 |