Recombinant Human Puratrophin-1 (PLEKHG4), Truncated

Uniprot Id

Q58EX7

Target Species

Human

Target Name

PLEKHG4

Target Full Name

Puratrophin-1

Target Function

Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.

Target Tissue Specificity

Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widel

Target Synonyms

ARHGEF44; DKFZp434I216; PH domain containing family G member 4; PH domain-containing family G member 4; PKHG4_HUMAN; Pleckstrin homology and RhoGEF domain containing G4; Pleckstrin homology domain containing family G (with RhoGef domain) member 4; Pleckstrin homology domain containing family G 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 Background

The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants.