ELOC
elongin C
Summary
This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1057519973 | 8:74,858,968 | T/G | missense variant | — |
| rs1057519974 | 8:74,858,969 | A/T | missense variant | — |
| rs72661842 | 8:74,860,155 | G/A | intron variant | — |
| rs72661846 | 8:74,866,919 | G/A | intron variant | — |
| rs756249668 | 8:74,868,230 | T/G | — | uncertain significance |
| rs751232384 | 8:74,868,284 | C/T | — | uncertain significance |
| rs72661850 | 8:74,868,909 | A/G | intron variant | — |
| rs72661853 | 8:74,876,293 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.