Health / Medical Topics |
ZFPM2 wt Allele
Human ZFPM2 wild-type allele is located in the vicinity of 8q23 and is approximately 486 kb in length. This allele, which encodes zinc finger protein ZFPM2, is involved in transcriptional regulation during heart development. Mutation of the gene is associated with both diaphragmatic hernia 3 and tetralogy of Fallot. A complex chromosomal rearrangement fuses this gene and the RUNX1 gene and is associated with myelodysplasia. (NCI Thesaurus)
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