Human genes encoding zinc finger-containing proteins

摘要

The invention provides nucleic acids that encode four human zinc finger-containing (ZNF) proteins MDZ3, MDZ4, MDZ7 and MDZ12, as well as probes, protein fusions, antibodies, plus transgenic cells and non-human organisms expressing the same. MDZ3 encodes a protein with a SCAN box (= leucine-rich) domain, a Kruppel-associated box (KRAB) domain and 7 ZNF motifs. MDZ4 encodes a proteins with a SCAN box domain and 5 ZNF motifs. MDZ7 has 7 ZNF motifs. MDZ12 has a KRAB domain (containing B domain only) with 12 ZNF repeats. A splice variant of MDZ12, MDZ12b encodes a protein with 12 ZNF repeats. Also provided are non-human organisms with targeted disruption of the endogenous orthologues of the four human genes. Pharmaceutical formulations of the nucleic acids, proteins and antibodies are provided as well as methods to diagnose diseases such as developmental disorders and cancer, including the detection of mutations.