Storage: -20C
UNSPSC Code: 12352203
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General description: This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. (provided by RefSeq)
Biochem/physiol Actions: SIX2 (SIX homeobox 2) is responsible for the regulation of cartilage growth and differentiation in endochondral skeleton. SIX2 also participates in the craniofacial skeletal muscle formation. It might prevent the abnormal drooping eyelids, by weakening the ability of levator muscle to contract. SIX2 haploinsufficiency is linked with congenital ossicle malformation. Mutation in SIX2 is found to be associated with the development of urinary tract, kidney, anterior cranial base, limb tendon and the formation of pyloric sphincter. Deletion in the gene might cause autosomal dominant frontonasal dysplasia syndrome. Mutation in the gene leads to renal hypodysplasia and also chemotherapy-resistant blastemas.
Immunogen: SIX2 (AAH24033, 1 a.a. ~ 291 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceMSMLPTFGFTQEQVACVCEVLQQGGNIERLGRFLWSLPACEHLHKNESVLKAKAVVAFHRGNFRELYKILESHQFSPHNHAKLQQLWLKAHYIEAEKLRGRPLGAVGKYRVRRKFPLPRSIWDGEETSYCFKEKSRSVLREWYAHNPYPSPREKRELTEATGLTTTQVSNWFKNRRQRDRAAEAKERENNENSNSNSHNPLNGSGKSVLGSSEDEKTPSGTPDHSSSSPALLLSPPPPGLPSLHSLGHPPGPSAVPVPVPGGGGADPLQHHHGLQDSILNPMSANLVDLGS
Physical form: Solution in phosphate buffered saline, pH 7.4
RIDADR: NONH for all modes of transport