EFHC2 Polyclonal Antibody - 100 µL

Alternate_names :EF hand domain C terminal containing 2 Description :EFHC2 contains 3 DM10 domains, followed by 3 putative EF-hand motifs. There are two named isoforms produced by alternative splicing. EFHC2 can be used as a quantitative trait locus for fear recognition in Turner syndrome.EF-HC2 is a 749 amino acid pr otein containing three DM10 domains and an EF-hand domain. EF-HC2 shares 41.6% homology with EF-HC1, and is widely expressed in peripheral tissues and central nervous system. The gene encoding EF-HC2 maps to human chromosome Xp11.3 and is critical fo r recognition of facial fear and harm avoidance. Turner syndrome, characterized by deficits in social cognition and recognition of facial fear, has been linked to the EF-HC2 gene. Deletion of the EF-HC2 gene may be associated with Norrie disease, an X-linked disorder that primarily effects the eye, and may also be linked to juvenile myoclonic epilepsy. EF-HC2 exists as two isoforms due to alternative splicing events. Applications :WB | IHC-P Species_reactivity :Human, Mouse, Rat Clonality :Polyclonal Concentration :1ug/ul Storage_Buffer :0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.