MGSSHHHHHH SSGLVPRGSH MPGQRRALSP KMASMRESDT GLWLHNKLGA TDELWAPPSI ASLLTAAVID NIRLCFHGLS SAVKLKLLLG TLHLPRRTVD EMKGALMEII QLASLDSDPW VLMVADILKS FPDTGSLNLE LEEQNPNVQD ILGELREKVG ECEASAMLPL ECQYLNKNAL TTLAGPLTPP VKHFQLKRKP KSATLRAELL QKSTETAQQL KRSAGVPFHA KGRGLLRKMD TTTPLKGIPK QAPFRSPTAP SVFSPTGNRT PIPPSRTLLR KERGVKLLDI SELDMVGAGR EAKRRRKTLD AEVVEKPAKE ETVVENATPD YAAGLVSTQK LGSLNNEPAL PSTSYLPSTP SVVPASSYIP SSETPPAPSS REASRPPEEP SAPSPTLPAQ FKQRAPMYNS GLSPATPTPA APTSPLTPTT PPAVAPTTQT PPVAMVAPQT QAPAQQQPKK NLSLTREQMF AAQEMFKTAN KVTRPEKALI LGFMAGSREN PCQEQGDVIQ IKLSEHTEDL PKADGQGSTT MLVDTVFEMN YATGQWTRFK KYKPMTNVS.
Wolf-Hirschhorn Syndrome (WHS) is a multiple malformation syndrome characterized by mental and developmental defects. It results from a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3) . The syndrome is named after the German geneticists Kurt Hirschhorn and Ulrich Wolf, who first described it in the 1960s. Individuals with WHS often exhibit distinctive facial features, growth delays, intellectual disabilities, and seizures.
The WHSC2 protein is encoded by the WHSC2 gene, which is located on the short arm of chromosome 4. The recombinant form of this protein, referred to as WHSC2 Human Recombinant, is produced in Escherichia coli (E. coli) and is fused with a 20 amino acid His-tag at the N-terminus . This recombinant protein is a single, non-glycosylated polypeptide chain containing 559 amino acids and has a molecular mass of approximately 60.6 kDa .
The production of WHSC2 Human Recombinant involves the expression of the WHSC2 gene in E. coli. The protein is then purified using proprietary chromatographic techniques to achieve a purity greater than 85% as determined by SDS-PAGE . The protein is formulated in a buffer containing 20 mM Tris-HCl (pH 8.0), 0.2 M NaCl, 5 mM DTT, 1 mM EDTA, and 20% glycerol .
WHSC2 Human Recombinant is used in various research and development applications, particularly in studies related to transcription regulation and the molecular mechanisms underlying Wolf-Hirschhorn Syndrome. The protein’s role in repressing RNA polymerase II elongation makes it a valuable tool for understanding the regulation of gene expression .