PLEKHG4, Antibody

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 16; NC_000016.9 (67311413..67323403). Location: 16q22.1

Rabbit

Phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol

1 mg/ml (lot specific)

Small volumes of anti-PLEKHG4 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

ELISA (EIA), Western Blot (WB)

130,803 Da

pleckstrin homology domain containing, family G (with RhoGef domain) member 4

puratrophin-1; PH domain-containing family G member 4; Purkinje cell atrophy associated protein 1; Purkinje cell atrophy-associated protein 1; pleckstrin homology domain-containing family G member 4

Puratrophin-1

PRTPHN1; PH domain-containing family G member 4  [Similar Products]

PKHG4_HUMAN

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]

PLEKHG4: a guanine nucleotide exchange factor (GEF) that facilitates activation of the small GTPases Rac1, Cdc42, and RhoA. A member of the Dbl family GEFs that regulates GTPase signaling critical for proper cerebellar function. Its expression is developmentally regulated in the murine brain, with pronounced expression in the newborn midbrain and brainstem that wanes with age and maximal expression in ***** cerebellar Purkinje neurons. Widely expressed at low levels. More strongly expressed in testis and pancreas. Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. May play a role in cytoskeleton dynamics at the Golgi. Overexpression in NIH3T3 cells induces rearrangements of the actin cytoskeleton including enhanced formation of lamellopodia and fillopodia. Three isoforms of the human protein are produced by alternative splicing. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons.

Protein type: GEFs; GEFs, Rac/Rho

Chromosomal Location of Human Ortholog: 16q22.1

Molecular Function: Rho guanyl-nucleotide exchange factor activity

Disease: Spinocerebellar Ataxia 31; Spinocerebellar Ataxia 4

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