IGF-IR Polyclonal Antibody, 50ul[BT-AP04398] Cryopreservation Mutations in this gene can

Mutations in this gene can cause optic atrophy 10| with or without ataxia| mental retardation| and seizures

including steroid

CD48 encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins

It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination

Gene Ontology (GO) annotations related to this gene include transcription factor activity

IGF-IR Polyclonal Antibody, 50ul[BT-AP04398] Cryopreservation Mutations in this gene canIGF1R, this receptor binds insulin like growth factor with a high affinity. It has tyrosine kinase activity. The insulin like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms