Mirror Image Polydactyly 1 (MIPOL1)

The predicted 442-amino acid MIPOL1 protein has 2 coiled-coil domains in its C terminus, the second of which is homologous to CARD14. Northern blot analysis detected weak MIPOL1 expression in adult heart, liver, skeletal muscle, kidney, and pancreas, as well as in fetal kidney.

MIPOL1 gene spans about 350 kb and contains 15 exons.The breakpoint in the mirror-image polydactyly patient with the t(2;14)(p23.3;q13) was located in intron 11 of the MIPOL1 gene, resulting in truncation of the protein. Two other unrelated patients with limb anomalies similar to mirror-image polydactyly showed no mutation in the MIPOL1 gene. The authors concluded that there is no gene at the breakpoint on 2p disrupted by the translocation.