SHFM1 Human
目录号 : GP24571Split Hand/Foot Malformation Type 1 Human Recombinant
Sample solution is provided at 25 µL, 10mM.
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| Purity | Greater than 85.0% as determined by SDS-PAGE. | Source | Escherichia Coli. |
| Phycical Appearance | Sterile Filtered colorless solution. | Shipping Condition | Shipped with Ice Packs. |
| Synonyms | SHFM1; Split Hand/Foot Malformation (Ectrodactyly) Type 1; DSS1; SHFD1; Deleted In Split Hand/Split Foot Protein 1; Split Hand/Foot Deleted Protein 1; Split Hand/Foot Malformation Type 1 Protein; Deleted In Split-Hand/Foot 1; 26S Proteasome Complex Subunit DSS1; ECD; SEM1; SHSF1; Shfdg1; Deleted In Split-Hand/Split-Foot 1; SHFDG1. | ||
| Amino Acid Sequence | MGSSHHHHHH SSGLVPRGSH MGSMSEKKQP VDLGLLEEDD EFEEFPAEDW AGLDEDEDAH VWEDNWDDDN VEDDFSNQLR AELEKHGYKM ETS. | ||
| Stability | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. | ||
| Formulation | SHFM1 protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH8.0), 10% glycerol and 0.1M NaCl. | ||
26S proteasome complex subunit DSS1 (SHFM1) has been suggested as a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. SHFM1 is a subunit of the 26S proteasome which plays a part in ubiquitin-dependent proteolysis. SHFM1 binds and stabilizes BRCA2 and is therefore involved in the control of R-loop-associated DNA damage and thus transcription-associated genomic instability. Furthermore, SHFM1 may have a role in the completion of the cell cycle. SHFM1 is a component of the TREX-2 complex (transcription and export complex 2), comprised of at least ENY2, GANP, PCID2, DSS1, and either centrin CETN2 or CETN3.
Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.