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

The adrenomedullin encoded by ADM is a preprohormone which is cleaved to form two biologically active peptides

This gene has a mouse ortholog

Translocation t(10

Polymorphisms in this gene may be associated with susceptibility for migraine headaches

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