S7A14 Rabbit Polyclonal Antibody, 50ul Cell Function Analysis Mutations in this gene have

Mutations in this gene have been associated with ataxia-ocular apraxia

which is proteolytically processed to its active form by caspase 1 (CASP1/ICE)

The ubiquitous enzymes consist of heterodimers with distinct large

This gene encodes a small GTPase of the Ras superfamily

S7A14 Rabbit Polyclonal Antibody, 50ul Cell Function Analysis Mutations in this gene haveThis gene is predicted to encode a glycosylated cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts neural tissue and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice this gene is expressed in the photoreceptor layer of the retina