Purine-Rich Element-Binding Protein A

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OMIM Number

600473

NCBI Gene ID

5813

Uniprot ID

Q00577

Length

11,511 bases

No. of Exons

1

Protein Name

Transcriptional activator protein Pur-alpha

Molecular Mass

34911 Da

Amino Acid Count

322

Genomic Location

chr5:140,114,109-140,125,619

Gene Map Locus
5q31.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005859.5:c.307_308delSaudi ArabiaNC_000005.10:g.140114484TC[2]PathogenicPathogenicNeurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding DifficultiesNG_041813.1:g.5362TC[2]; NM_005859.5:c.307_308del; NP_005850.1:p.Ser103HisfsTer97587782992156404
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