REPS1(Phospho-Ser709) Rabbit Polyclonal Antibody, 100ul Miscellaneous Defects in this gene cause

Defects in this gene cause Niemann-Pick type C disease| a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments

MAFA is a transcription factor that binds RIPE3b| a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS

GANAB encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins

This gene has a mouse ortholog

and patients homozygous for a variant haplotype of CX3CR1 progress to AIDS more rapidly than those with other haplotypes

REPS1(Phospho-Ser709) Rabbit Polyclonal Antibody, 100ul Miscellaneous Defects in this gene causeThis gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3 domain growth factor receptor bound 2 like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin coated pits. The encoded protein has also been shown to interact with