基因名称(Gene Name)
REEP1 C2orf23
蛋白名称
Receptor expression-enhancing protein 1
免疫原
Synthesized peptide derived from human protein . at AA range: 61-110
特异性
REEP1 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
Alpha-methylacyl-CoA racemase (EC 5.1.99.4;2-methylacyl-CoA racemase)
背景
This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009],
功能
disease:Defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]. 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.,function:May enhance the cell surface expression of odorant receptors.,similarity:Belongs to the DP1 family.,subunit:Interacts with odorant receptor proteins.,
