REEP1 Antibody – Mouse Monoclonal

REEP1: Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. Defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31 (SPG31). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Belongs to the DP1 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Cellular Component: cytoplasm; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; membrane; mitochondrion; plasma membrane

Molecular Function: microtubule binding; olfactory receptor binding

Biological Process: protein insertion into membrane; regulation of intracellular transport