Synphilin-1 Polyclonal Antibody, 50ul Rotator An important paralog of this

An important paralog of this gene is ANO5

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

Transcript variants encoding different isoforms have been found for this gene

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

Synphilin-1 Polyclonal Antibody, 50ul Rotator An important paralog of thisSNCAIP 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.