REEP2

This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Full Name

Receptor Accessory Protein 2

Function

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).

Biological Process

Biological Process endoplasmic reticulum tubular network organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process protein transport into membrane raftIEA:Ensembl
Biological Process regulation of intracellular transportIEA:Ensembl
Biological Process sensory perception of bitter tasteIEA:Ensembl
Biological Process sensory perception of sweet tasteIEA:Ensembl

Cellular Location

Membrane

Involvement in disease

Spastic paraplegia 72 (SPG72):
A form of spastic paraplegia, 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. SPG72 is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal. SPG72 inheritance is autosomal dominant or recessive.