Description
Product Characteristics:
Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.
Subcellular location: Cytoplasm, Nucleus
Synonyms: ARHGEF44, PH domain-containing family G member 4, PKHG4_HUMAN, Pleckstrin homology domain containing family G with RhoGef domain member 4, member 4, Pleckstrin homology domain-containing family G member 4, PLEKHG 4, PLEKHG4, PRTPHN 1, PRTPHN1, Puratrophin 1, Puratrophin-1, Puratrophin1, Purkinje cell atrophy associated protein 1, Purkinje cell atrophy-associated protein 1, SCA 4, SCA4.
Target Information: The protein encoded by this gene 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. [provided by RefSeq, Jul 2008]