IRF2BPL explained

Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene.^{[1] [2] [3]} Mutations are associated with neurological problems.^[4] More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.

External links

• • Parent Group Europe http://irf2bpl.de

Further reading

• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . Sep 1996 . 8889548 . 10.1101/gr.6.9.791 . free .
• Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O . Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Research . 8 . 2 . 85–95 . Apr 2001 . 11347906 . 10.1093/dnares/8.2.85 . free .
• Scott MP, Zappacosta F, Kim EY, Annan RS, Miller WT . Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1 . The Journal of Biological Chemistry . 277 . 31 . 28238–46 . Aug 2002 . 12029088 . 10.1074/jbc.M202783200 . free .
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP . Large-scale characterization of HeLa cell nuclear phosphoproteins . Proceedings of the National Academy of Sciences of the United States of America . 101 . 33 . 12130–5 . Aug 2004 . 15302935 . 514446 . 10.1073/pnas.0404720101 . 2004PNAS..10112130B . free .
• Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP . Phosphoproteomic analysis of the developing mouse brain . Molecular & Cellular Proteomics . 3 . 11 . 1093–101 . Nov 2004 . 15345747 . 10.1074/mcp.M400085-MCP200 . free .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–48 . Nov 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . free .

Notes and References

1. Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, Hood L, Nava A, Danieli GA . Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region . Biochemical and Biophysical Research Communications . 278 . 3 . 766–74 . Nov 2000 . 11095982 . 10.1006/bbrc.2000.3883 .
2. Heger S, Mastronardi C, Dissen GA, Lomniczi A, Cabrera R, Roth CL, Jung H, Galimi F, Sippell W, Ojeda SR . Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis . The Journal of Clinical Investigation . 117 . 8 . 2145–54 . Aug 2007 . 17627301 . 1906733 . 10.1172/JCI31752 .
3. Web site: IRF2BPL interferon regulatory factor 2 binding protein like [Homo sapiens (human) ]].
4. IRF2BPL Is Associated with Neurological Phenotypes. American Journal of Human Genetics . 103 . 2 . 245–260 . Paul C. Marcogliese. etal. 10.1016/j.ajhg.2018.07.006. 30057031 . 2018 . 6081494 .