Synphilin-1 Polyclonal Antibody, 50ul Rotator Defects in this gene are

Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD)

Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13

It is essential for disk morphogenesis| and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim

Although there is no evidence of transcription from this pseudogene

Synphilin-1 Polyclonal Antibody, 50ul Rotator Defects in this gene areSNCAIP encodes Synphilin 1 containing several protein protein interaction domains, including ankyrin like repeats, a coiled coil domain, and an ATP GTP binding motif. The synphilin 1 interacts with alpha synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants.