SPG33 Antibody – Rabbit Polyclonal

This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]

ZFYVE27: Functions as an upstream inhibitor of RAB11, regulating directional protein transport to the forming neurites. Involved in nerve growth factor-induced neurite formation. May have a more general role in cell projections formation. Defects in ZFYVE27 are the cause of spastic paraplegia autosomal dominant type 33 (SPG33). 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. According to PubMed:18606302, the properties of the variant Val-191 and its frequency in some populations raise doubts on the implication of that gene in the disease. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Cytoskeletal

Chromosomal Location of Human Ortholog: 10q24.2

Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum; recycling endosome membrane; axon; dendrite; integral to membrane

Molecular Function: protein binding; metal ion binding

Biological Process: nerve growth factor receptor signaling pathway; neurite development

Disease: Spastic Paraplegia 33, Autosomal Dominant