Aliases for NELFA Gene
External Ids for NELFA Gene
Previous HGNC Symbols for NELFA Gene
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]
GeneCards Summary for NELFA Gene
NELFA (Negative Elongation Factor Complex Member A) is a Protein Coding gene. Diseases associated with NELFA include wolf-hirschhorn syndrome and hepatitis d. Among its related pathways are Infectious disease and Gene Expression. GO annotations related to this gene include chromatin binding and translation elongation factor activity.
UniProtKB/Swiss-Prot for NELFA Gene
Essential component of the NELF complex, a complex that negatively regulates the elongation of transcription by RNA polymerase II. The NELF complex, which acts via an association with the DSIF complex and causes transcriptional pausing, is counteracted by the P-TEFb kinase complex. Probably required to interact with the RNA polymerase II complex.