PURA

Chr 5

purine rich element binding protein A

Also known as: MRD31, NEDRIHF, PUR-ALPHA, PUR1, PURALPHA

NCBI Gene: 5813 ENSG00000185129 UniProt: Q00577

The protein is a sequence-specific single-stranded DNA-binding protein that binds to purine-rich elements at replication origins and gene flanking regions, controlling DNA replication and transcription. Loss-of-function mutations cause an autosomal dominant neurodevelopmental disorder characterized by neonatal respiratory insufficiency, hypotonia, and feeding difficulties. The high pLI score (0.94) indicates strong intolerance to loss-of-function variants, consistent with haploinsufficiency as the disease mechanism.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· G2P

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GeneReview available — PURA