Activity-dependent neuroprotector homeobox is a protein that in humans is encoded by the ADNP gene.[5]
Function
Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described.[5]
Clinical significance
Mutations in ADNP are the cause of ADNP syndrome.[6] Although it is unclear how mutations in the ADNP gene affect ADNP protein function, researchers suggest that the mutations result in abnormal chromatin remodeling. Disturbance of this process alters the activity of many genes and disrupts development or function of several of the body's tissues and organs, including the brain.[7]
^Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N (2014). "A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP". Nature Genetics. 46 (4): 380–4. doi:10.1038/ng.2899. PMC3990853. PMID24531329.
Dresner E, Agam G, Gozes I (2011). "Activity-dependent neuroprotective protein (ADNP) expression level is correlated with the expression of the sister protein ADNP2: Deregulation in schizophrenia". European Neuropsychopharmacology. 21 (5): 355–61. doi:10.1016/j.euroneuro.2010.06.004. PMID20598862. S2CID28533690.
Aboonq MS, Vasiliou SA, Haddley K, Quinn JP, Bubb VJ (2012). "Activity-dependent neuroprotective protein modulates its own gene expression". Journal of Molecular Neuroscience. 46 (1): 33–9. doi:10.1007/s12031-011-9562-y. PMID21647709. S2CID17185333.
Nozawa RS, Nagao K, Masuda HT, Iwasaki O, Hirota T, Nozaki N, Kimura H, Obuse C (2010). "Human POGZ modulates dissociation of HP1α from mitotic chromosome arms through Aurora B activation". Nature Cell Biology. 12 (7): 719–727. doi:10.1038/ncb2075. PMID20562864. S2CID7389788.
Yang MH, Yang YH, Lu CY, Jong SB, Chen LJ, Lin YF, Wu SJ, Chu PY, Chung TW, Tyan YC (2012). "Activity-dependent neuroprotector homeobox protein: A candidate protein identified in serum as diagnostic biomarker for Alzheimer's disease". Journal of Proteomics. 75 (12): 3617–29. doi:10.1016/j.jprot.2012.04.017. PMID22554909.
Rosnoblet C, Vandamme J, Völkel P, Angrand PO (2011). "Analysis of the human HP1 interactome reveals novel binding partners". Biochemical and Biophysical Research Communications. 413 (2): 206–11. doi:10.1016/j.bbrc.2011.08.059. PMID21888893.
