RTN2 Antibody – Mouse Polyclonal

This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]

RTN2: Defects in RTN2 are the cause of spastic paraplegia autosomal dominant type 12 (SPG12). 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. 3 isoforms of the human protein are produced by alternative splicing.

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

Chromosomal Location of Human Ortholog: 19q13.32

Cellular Component: endoplasmic reticulum; T-tubule; integral to endoplasmic reticulum membrane

Molecular Function: protein binding

Biological Process: intracellular protein transport across a membrane; regulation of glucose import

Disease: Spastic Paraplegia 12, Autosomal Dominant