REEP2 gene

receptor accessory protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

From NCBI Gene:

  • Spastic paraplegia 72, autosomal recessive

From UniProt:

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. [MIM:615625]

Cytogenetic Location: 5q31.2, which is the long (q) arm of chromosome 5 at position 31.2

Molecular Location: base pairs 138,439,001 to 138,446,969 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q31.2, which is the long (q) arm of chromosome 5 at position 31.2
  • C5orf19
  • SGC32445
  • SPG72
  • Yip2d