RBCK1 Chromosome 20
RANBP2-type and C3HC4-type zinc finger containing 1
Upload your DNA to see your personal genotypes for variants in RBCK1.
What This Gene Does
Enables several functions, including identical protein binding activity; transcription coactivator activity; and ubiquitin binding activity. Involved in several processes, including positive regulation of canonical NF-kappaB signal transduction; protein linear polyubiquitination; and regulation of DNA-binding transcription factor activity. Part of LUBAC complex. Implicated in glycogen storage disease. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers RANBP2-type|Linear ubiquitin chain assembly complex |RBR E3 ubiquitin ligases"
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000125826
Associated Conditions (8)
Polyglucosan body myopathy type 1
Inborn genetic diseases
Glycogen storage disease
type IV
RBCK1-related disorder
Polyglucosan body myopathy 1 without immunodeficiency
Polyglucosan body myopathy 1 with immunodeficiency
See cases
Key Variants
RS1342598444
Conflicting classifications of pathogenicity
Polyglucosan body myopathy type 1, Inborn genetic diseases, Polyglucosan body myopathy type 1
Health Risk
RS150032325
Conflicting classifications of pathogenicity
Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
Health Risk
RS1555787599
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Polyglucosan body myopathy type 1
Health Risk
RS377605009
Conflicting classifications of pathogenicity
Polyglucosan body myopathy type 1, RBCK1-related disorder, Polyglucosan body myopathy type 1
Health Risk
RS763971799
Conflicting classifications of pathogenicity
Polyglucosan body myopathy type 1, Inborn genetic diseases, Polyglucosan body myopathy type 1
Health Risk
RS1017046170
Likely pathogenic
Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
Health Risk
RS2016220601
Likely pathogenic
Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
Health Risk
RS2122348874
Likely pathogenic
Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency
Health Risk
RS2514545916
Likely pathogenic
Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
Health Risk
RS566912235
Likely pathogenic
Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1
Health Risk
RS1017569758
Pathogenic
Inborn genetic diseases, Polyglucosan body myopathy type 1, Inborn genetic diseases
Health Risk
RS1358467254
Pathogenic
Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1342598444 | Health Risk | Conflicting classifications of pathogenicity | Polyglucosan body myopathy type 1, Inborn genetic diseases, Polyglucosan body myopathy type 1 |
| RS150032325 | Health Risk | Conflicting classifications of pathogenicity | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS1555787599 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease, type IV, Polyglucosan body myopathy type 1 |
| RS377605009 | Health Risk | Conflicting classifications of pathogenicity | Polyglucosan body myopathy type 1, RBCK1-related disorder, Polyglucosan body myopathy type 1 |
| RS763971799 | Health Risk | Conflicting classifications of pathogenicity | Polyglucosan body myopathy type 1, Inborn genetic diseases, Polyglucosan body myopathy type 1 |
| RS1017046170 | Health Risk | Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2016220601 | Health Risk | Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2122348874 | Health Risk | Likely pathogenic | Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency |
| RS2514545916 | Health Risk | Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS566912235 | Health Risk | Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1 |
| RS1017569758 | Health Risk | Pathogenic | Inborn genetic diseases, Polyglucosan body myopathy type 1, Inborn genetic diseases |
| RS1358467254 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS1390985798 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS1487503835 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS1568554654 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2016252024 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2016261486 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2016789960 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2122245228 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2122245690 | Health Risk | Pathogenic | Polyglucosan body myopathy 1 with immunodeficiency, Polyglucosan body myopathy 1 with immunodeficiency |
| RS2122268456 | Health Risk | Pathogenic | Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy 1 without immunodeficiency |
| RS2122281705 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2122282189 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2514545949 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS587777561 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1 |
| RS727503762 | Health Risk | Pathogenic | Polyglucosan body myopathy 1 with immunodeficiency, Polyglucosan body myopathy 1 with immunodeficiency |
| RS727503763 | Health Risk | Pathogenic | Polyglucosan body myopathy 1 with immunodeficiency, Polyglucosan body myopathy 1 with immunodeficiency |
| RS727503764 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS727503765 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS730880329 | Health Risk | Pathogenic | Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency |
| RS746197240 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS751005507 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS780854072 | Health Risk | Pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS1555787903 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2016260522 | Health Risk | Pathogenic/Likely pathogenic | See cases, Polyglucosan body myopathy type 1, See cases |
| RS2122268166 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1 |
| RS2122333654 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1 |
| RS2122349615 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1 |
| RS730880330 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1 |