Pleckstrin Homology Domain Containing Family G, Member 4 (PLEKHG4)

PLEKHG4 contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5""" UTR, or encoding a different isoform, have been found for this gene.It contains a cellular retinaldehyde-binding/triple function domain, followed by a spectrin repeat domain, a guanine-nucleotide exchange factor domain, a Dbl-homologous domain, and a pleckstrin-like homology domain, suggesting puratrophin-1 has a role in intracellular signaling and actin dynamics at the Golgi apparatus. The most abundant splice variant has an unspliced intron 1, resulting in a premature stop codon within intron 1 after 26 amino acids.