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SNTG2 encodes a protein belonging to the syntrophin family. Additionally we are shipping SNTG2 Antibodies (30) and many more products for this protein.
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MYT1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins.
role in regulating SCN5A gating by a PDZ domain-mediated interaction
A de novo binding partner of X-linked neuroligin 4 and neuroligin 3, which correlates with autism-related mutations.
Gamma1-Syntrophin (show SNTG1 Proteins) is highly expressed in brain and is specifically localized in hippocampal pyramidal neurons, Purkinje neurons in cerebellum, and cortical neurons. gamma2-Syntrophin is expressed in many tissues including skeletal muscle.
This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described.
syntrophin, gamma 2