SACS Polyclonal Antibody, 50ul Cytokines an allelic variant of the

an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7

The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid

The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule| and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression

Mouse studies suggest that this receptor is essential for normal male reproductive function

The specific function of this gene has not been determined

SACS Polyclonal Antibody, 50ul Cytokines an allelic variant of theThis gene encodes the sacsin protein, which includes a UbL domain at the N terminus, a DnaJ domain, and a HEPN domain at the C terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12. 8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), a neurodegenerative