NELFA

Chr 4

negative elongation factor complex member A

Also known as: NELF-A, P/OKcl.15, WHSC2

NCBI Gene: 7469 ENSG00000185049 UniProt: Q9H3P2

NELFA encodes an essential component of the NELF complex that negatively regulates RNA polymerase II transcription elongation. Mutations cause Wolf-Hirschhorn syndrome, a malformation syndrome that follows an autosomal dominant inheritance pattern due to hemizygous deletions of chromosome 4p16.3. The gene is highly constrained against loss-of-function variants (LOEUF 0.514), consistent with its essential role in transcriptional regulation.

ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429