Anti-Shoc2/Sur8 Antibody Picoband® Fluoro647 Conjugated

Leucine-rich repeat protein SHOC-2 is a protein that in humans is encoded by the SHOC2 gene. This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair.

DNA- (apurinic or apyrimidinic site) lyase 2;3.1.-.-;4.2.99.18; AP endonuclease XTH2; APEX nuclease 2; APEX nuclease-like 2; Apurinic-apyrimidinic endonuclease 2; AP endonuclease 2; APEX2; APE2, APEXL2, XTH2

Function as a weak apurinic/apyrimidinic (AP) endodeoxyribonuclease in the DNA base excision repair (BER) pathway of DNA lesions induced by oxidative and alkylating agents. Initiates repair of AP sites in DNA by catalyzing hydrolytic incision of the phosphodiester backbone immediately adjacent to the damage, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends. Displays also double-stranded DNA 3'-5' exonuclease, 3'-phosphodiesterase activities. Shows robust 3'-5' exonuclease activity on 3'-recessed heteroduplex DNA and is able to remove mismatched nucleotides preferentially. Shows fairly strong 3'-phosphodiesterase activity involved in the removal of 3'-damaged termini formed in DNA by oxidative agents. In the nucleus functions in the PCNA-dependent BER pathway. Required for somatic hypermutation (SHM) and DNA cleavage step of class switch recombination (CSR) of immunoglobulin genes. Required for proper cell cycle progression during proliferation of peripheral lymphocytes. .

1. Cordeddu, V., Di Schiavi, E., Pennacchio, L. A., Ma'ayan, A., Sarkozy, A., Fodale, V., Cecchetti, S., Cardinale, A., Martin, J., Schackwitz, W., Lipzen, A., Zampino, G., and 19 others. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nature Genet. 41: 1022-1026, 2009. 2. Gripp, K. W., Zand, D. J., Demmer, L., Anderson, C. E., Dobyns, W. B., Zackai, E. H., Denenberg, E., Jenny, K., Stabley, D. L., Sol-Church, K. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am. J. Med. Genet. 161A: 2420-2430, 2013. 3. Hannig, V., Jeoung, M., Jang, E. R., Phillips, J. A., III, Galperin, E. A novel SHOC2 variant in rasopathy. Hum. Mutat. 35: 1290-1294, 2014.