The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
Function
peptidase activity; protein binding;
Synonyms
SHFM1; split hand/foot malformation (ectrodactyly) type 1; ECD; DSS1; SEM1; SHFD1; SHSF1; Shfdg1; 26S proteasome complex subunit DSS1; split hand/foot deleted protein 1; deleted in split-hand/split-foot 1; deleted in split hand/split foot protein 1; split hand/foot malformation type 1 protein;
Citations
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