| Modification Notes |
The development of the heterogeneous limb disorder known as split hand/split foot malformation (SHFM), which is characterized by missing digits and fusions of the remaining digits, is the result of aberrations in the DSS1 gene. DSS1, for deleted in split hand/split foot malformation, is implicated in the formation of limb bud, craniofacial primordial, and skin, where it contributes to the differentiation of new cellular structures and membrane trafficking during the early developmental stages. DSS1 is a highly acidic protein consisting of 70 amino acids, and it shares no significant sequence similarities to any members of other known protein families yet shares 100% sequence identity with its murine homolog. As an integral protein in the cell cycle completion, DSS1 may also be an important indicator for the predisposition of early onset breast cancer, as it associates with the tumor suppressor protein BRCA2 in MCF7 cells. |