This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that ZNF384 may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants.
Recurrent rearrangements of this gene with the Ewing's sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia.
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Martini A, La Starza R, Janssen H, Bilhou-Nabera C, Corveleyn A, Somers R, Aventin A, Foà R, Hagemeijer A, Mecucci C, Marynen P (Oct 2002). "Recurrent rearrangement of the Ewing's sarcoma gene, EWSR1, or its homologue, TAF15, with the transcription factor CIZ/NMP4 in acute leukemia". Cancer Research. 62 (19): 5408–12. PMID12359745.
La Starza R, Aventin A, Crescenzi B, Gorello P, Specchia G, Cuneo A, Angioni A, Bilhou-Nabera C, Boqué C, Foà R, Uyttebroeck A, Talmant P, Cimino G, Martelli MF, Marynen P, Mecucci C, Hagemeijer A (Sep 2005). "CIZ gene rearrangements in acute leukemia: report of a diagnostic FISH assay and clinical features of nine patients". Leukemia. 19 (9): 1696–9. doi:10.1038/sj.leu.2403842. PMID15990865.
Janssen H, Marynen P (Apr 2006). "Interaction partners for human ZNF384/CIZ/NMP4--zyxin as a mediator for p130CAS signaling?". Experimental Cell Research. 312 (7): 1194–204. doi:10.1016/j.yexcr.2006.02.001. PMID16510139.