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Gene Review

NELFA  -  negative elongation factor complex member A

Homo sapiens

Synonyms: NELF-A, Negative elongation factor A, P/OKcl.15, WHSC2, Wolf-Hirschhorn syndrome candidate 2 protein
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Disease relevance of WHSC2

  • NELF-A has sequence similarity to hepatitis delta antigen (HDAg), the viral protein that binds to and activates RNAPII, whereas NELF-E is an RNA-binding protein whose RNA-binding activity is critical for NELF function [1].

High impact information on WHSC2

  • A 66-kilodalton subunit of NELF (NELF-A) shows limited sequence similarity to hepatitis delta antigen (HDAg), the viral protein required for replication of hepatitis delta virus (HDV) [2].
  • Modulation of WHSC2 expression in human endothelial cells [3].
  • Since members of the HLH family control differentiation and cell cycle progression, we hypothesize that WHSC2 may function as a transcriptional repressor [3].
  • The deletion encompasses 191.5 kb and includes WHSC2, but not LETM1 [4].
  • The smallest deletion detected in a WHS patient thus far includes two candidate genes, WHSC1 and WHSC2 [5].


  1. Human transcription elongation factor NELF: identification of novel subunits and reconstitution of the functionally active complex. Narita, T., Yamaguchi, Y., Yano, K., Sugimoto, S., Chanarat, S., Wada, T., Kim, D.K., Hasegawa, J., Omori, M., Inukai, N., Endoh, M., Yamada, T., Handa, H. Mol. Cell. Biol. (2003) [Pubmed]
  2. Stimulation of RNA polymerase II elongation by hepatitis delta antigen. Yamaguchi, Y., Filipovska, J., Yano, K., Furuya, A., Inukai, N., Narita, T., Wada, T., Sugimoto, S., Konarska, M.M., Handa, H. Science (2001) [Pubmed]
  3. Modulation of WHSC2 expression in human endothelial cells. Mariotti, M., Manganini, M., Maier, J.A. FEBS Lett. (2000) [Pubmed]
  4. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Rauch, A., Schellmoser, S., Kraus, C., Dörr, H.G., Trautmann, U., Altherr, M.R., Pfeiffer, R.A., Reis, A. Am. J. Med. Genet. (2001) [Pubmed]
  5. Mild Wolf-Hirschhorn phenotype and partial GH deficiency in a patient with a 4p terminal deletion. Titomanlio, L., Romano, A., Conti, A., Genesio, R., Salerno, M., De Brasi, D., Nitsch, L., Del Giudice, E. Am. J. Med. Genet. A (2004) [Pubmed]
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