Entrez gene ID | | 7469 |
Official gene symbol | | NELFA |
Full name | | Wolf-Hirschhorn syndrome candidate 2 |
Aliases | | ,NELF-A,WHSC2, |
Gene summary | | 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] |
Location | | Chromosome: 4 Locus: 4p16.3 |
Gene position | | 2010959 - 1984443 Map Viewer |
Gene orientation | | minus |
Gene size | | 26517 bp |
Gene sequence |
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OMIM ID | | 606026 |
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