ELOA2

Chr 18

elongin A2

Also known as: HsT832, TCEB3B, TCEB3L

NCBI Gene: 51224 ENSG00000206181 UniProt: Q8IYF1

The protein is the transcriptionally active subunit of the elongin transcription elongation factor complex that increases RNA polymerase II elongation by suppressing polymerase pausing, with specific expression in testis suggesting a role in spermatogenesis. Mutations in ELOA2 cause developmental and epileptic encephalopathy with inheritance pattern not established in the provided data. The condition involves the nervous system with seizures and developmental impairment.

ResearchSummary from RefSeq, UniProt

This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex acts to increase the rate of RNA chain elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites along the DNA template. Whereas a related protein with similar function, elongin A, is ubiquitously expressed, the encoded protein is specifically expressed in the testis, suggesting it may have a role in spermatogenesis. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)