| NELFA | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | NELFA, NELF-A, WHSC2, P/OKcl.15, negative elongation factor complex member A | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606026; MGI: 1346098; GeneCards: NELFA | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Negative elongation factor A (or NELF-A) is a protein that in humans is encoded by the NELFA gene (previously WHSC2). This protein is part of the negative elongation factor (NELF) complex, together with NELF-B, NELF-E, and either the C or D isoform of NELF-C/D. This complex interacts with RNA polymerase II-based transcriptional elongation and triggers transcriptional pausing. Though it was originally called "Wolf-Hirschhorn syndrome candidate 2", later research has indicated that it is actually not involved with Wolf-Hirschhorn syndrome.
This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. NELFA encodes the NELF-A subunit of the NELF complex.