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Immunogen sequence: CQDSNICAVF AVQGGKVGRK HGIKRGRRPS IRSPAQRARG PWIHESKHPA FAKQQINLEM P
Highest antigen sequence identity to the following orthologs: Mouse - 28%, Rat - 28%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 26S proteasome complex subunit DSS1; 26S proteasome complex subunit SEM1; Deleted in split hand/split foot protein 1; deleted in split-hand/split-foot 1; Split hand/foot deleted protein 1; Split hand/foot malformation type 1 protein
Gene Aliases: C7orf76; DSS1; ECD; SEM1; SHFD1; SHFDG1; SHFM1; SHSF1
UniProt ID: (Human) P60896
Entrez Gene ID: (Human) 7979
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