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

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

SACS Polyclonal Antibody, 50ul Cytokines Boost your immune system withThis 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