PURA Chromosome 5
Purine rich element binding protein A
Upload your DNA to see your personal genotypes for variants in PURA.
What This Gene Does
This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]
Associated Conditions (16)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Inborn genetic diseases
Intellectual disability
PURA-related disorder
See cases
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Global developmental delay
Neonatal hypotonia
Delayed speech and language development
Seizure
Epileptic encephalopathy
PURA Syndrome
Limb dystonia
Generalized hypotonia
Apnea
Abnormality of the nervous system
Key Variants
RS1046152089
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases, Intellectual disability
Health Risk
RS1085307826
Conflicting classifications of pathogenicity
Health Risk
RS1271325628
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS1335796595
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS142688247
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases, PURA-related disorder
Health Risk
RS1430796646
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS1554129049
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS1581036537
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS1763036938
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS1763038797
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS2126749113
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
RS2479504573
Conflicting classifications of pathogenicity
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Health Risk
All Variants (187)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1581036073 | Health Risk | Pathogenic | Epileptic encephalopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Epileptic encephalopathy |
| RS1581036115 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1581036164 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1581036297 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1581036318 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1581036360 | Health Risk | Pathogenic | — |
| RS1581036383 | Health Risk | Pathogenic | PURA Syndrome, PURA Syndrome |
| RS1763034422 | Health Risk | Pathogenic | — |
| RS1763036339 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1763036977 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1763038687 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1763039753 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1763041722 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA Syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1763047286 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1763049807 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1763049893 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1763052510 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1763053171 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1763053563 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS1763053819 | Health Risk | Pathogenic | — |
| RS2126748581 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126748783 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126748787 | Health Risk | Pathogenic | — |
| RS2126748843 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126748922 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126748969 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
| RS2126749006 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749009 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749031 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749067 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749118 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749156 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749179 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749210 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, Inborn genetic diseases |
| RS2126749287 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749301 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749353 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2126749415 | Health Risk | Pathogenic | — |
| RS2126749469 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2479503377 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2479503492 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2479503494 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2479503541 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2479503553 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2479503562 | Health Risk | Pathogenic | PURA-related disorder, PURA-related disorder |
| RS2479503825 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation |
| RS2479504515 | Health Risk | Pathogenic | — |
| RS2479504523 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2479504544 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS2479504896 | Health Risk | Pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |