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plekhg4

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Official Full Name
pleckstrin homology domain containing, family G (with RhoGef domain) member 4
Background
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.
Synonyms
PLEKHG4; pleckstrin homology domain containing, family G (with RhoGef domain) member 4; SCA4, spinocerebellar ataxia 4; puratrophin-1; ARHGEF44; DKFZP434I216; puratrophin 1; Pleckstrin homology domain containing family G (with RhoGef domain) member 4; Pleckstrin homology domain containing family G member 4; PLEKHG 4; PRTPHN 1; PRTPHN1; Puratrophin1; Purkinje cell atrophy associated protein 1; SCA 4; SCA4; PH domain-containing family G member 4; Purkinje cell atrophy-associated protein 1; pleckstrin homology domain-containing family G member 4

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