FZR1 Chromosome 19
Fizzy and cell division cycle 20 related 1
Upload your DNA to see your personal genotypes for variants in FZR1.
What This Gene Does
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000105325
Associated Conditions (7)
Seizure
Global developmental delay
Cerebellar ataxia
Autism
Hypotonia
Developmental and epileptic encephalopathy 109
Inborn genetic diseases
Key Variants
RS2083259164
Conflicting classifications of pathogenicity
Seizure, Global developmental delay, Cerebellar ataxia
Health Risk
RS2512293384
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1002017728
Pathogenic
Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109
Health Risk
RS2512277057
Pathogenic
Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109
Health Risk
RS2512277062
Pathogenic
Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2083259164 | Health Risk | Conflicting classifications of pathogenicity | Seizure, Global developmental delay, Cerebellar ataxia |
| RS2512293384 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1002017728 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109 |
| RS2512277057 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109 |
| RS2512277062 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 109, Developmental and epileptic encephalopathy 109 |