RGRF1 Polyclonal Antibody, 50ul Cell Culture Dishes Mutations in this gene lead

Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex

This endoplasmic reticulum protein is expressed in the brain

Expression of inositol polyphosphate-5-phosphatase D is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation

The physiological function has not been determined but it is known that the protein binds heme

Mutations in this gene result in familial dysbetalipoproteinemia

RGRF1 Polyclonal Antibody, 50ul Cell Culture Dishes Mutations in this gene leadThe protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta gamma subunit. Mouse studies