Erbin Rabbit Polyclonal Antibody, 50ul[BT-AP09695] Deep Well Plates Mutations and deficiencies in this

Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy| an autosomal recessive disorder of unregulated and high insulin secretion

Expression of the human protein has been detected in uterus

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle

reducing the research

May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane

Erbin Rabbit Polyclonal Antibody, 50ul[BT-AP09695] Deep Well Plates Mutations and deficiencies in thisThis gene is a member of the leucine rich repeat and PDZ domain (LAP) family. The encoded protein contains 17 leucine rich repeats and one PDZ domain. It binds to the unphosphorylated form of the ERBB2 protein and regulates ERBB2 function and localization. It has also been shown to affect the Ras signaling pathway by disrupting Ras Raf interaction. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.