GIGYF2 Antibody – Rabbit Polyclonal

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

TNRC15 iso3: May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling, including IGF1 and insulin receptors. Defects in GIGYF2 are may be the cause of Parkinson disease type 11 (PARK11). A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. Belongs to the PERQ family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation

Chromosomal Location of Human Ortholog: 2q37.1

Cellular Component: cell-cell adherens junction; endoplasmic reticulum; endosome; Golgi apparatus; membrane; perikaryon; stress granule

Molecular Function: protein binding

Biological Process: insulin-like growth factor receptor signaling pathway; negative regulation of translation; posttranscriptional gene silencing

Disease: Parkinson Disease 11, Autosomal Dominant