REEP1 : receptor accessory protein 1

Description

The REEP1 (receptor accessory protein 1) is a protein-coding gene located on chromosome 2.

The REEP1 gene provides instructions for making a protein called receptor expression-enhancing protein 1 (REEP1), found in nerve cells (neurons) in the brain and spinal cord. REEP1 is located within mitochondria (energy-producing centers) and the endoplasmic reticulum (ER), which assists with protein processing and transport. REEP1 plays a role in forming the ER network, regulating its size and protein processing capacity. It enhances the activity of certain G protein-coupled receptors, which are embedded in the cell membrane, relaying chemical signals. The function of REEP1 in mitochondria is unknown.

REEP1 is essential for the formation, shaping, and remodeling of the endoplasmic reticulum (ER) network by connecting ER tubules to the cytoskeleton. Additionally, it may enhance the cell surface expression of odorant receptors and play a role in long-term axonal maintenance.

REEP1 is also known as C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a.

Associated Diseases

• Autosomal dominant spastic paraplegia type 31
• Spinal muscular atrophy, distal, autosomal recessive, 6
• Distal hereditary motor neuropathy type 5
• Neuronopathy, distal hereditary motor, type VB
• Spastic paraplegia 31, autosomal dominant
• Distal hereditary motor neuropathy, type V
• Spastic paraplegia type 31