CD246/ALK Antibody – Rabbit Polyclonal

This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]

ALK: a tyrosine kinase of the ALK family. Plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. Translocated and expressed as a fusion protein in anaplastic lymphoma. About one third of large-cell lymphomas are caused by a t(2;5)(p23;q35) translocation that fuses ALK to nucleophosmin (NPM1A). Other cases caused by fusions of ALK to moesin, non-muscle myosin heavy chain 9, clathrin heavy chain and other genes. Several fusions also seen in inflammatory myofibroblastic tumors, and expression has been briefly noted in a range of tumors

Protein type: Oncoprotein; Protein kinase, TK; Kinase, protein; Membrane protein, integral; EC 2.7.10.1; Protein kinase, tyrosine (receptor); TK group; Alk family

Chromosomal Location of Human Ortholog: 2p23

Cellular Component: integral to plasma membrane; intracellular; protein complex

Molecular Function: ATP binding; identical protein binding; NF-kappaB-inducing kinase activity; protein binding; protein-tyrosine kinase activity; transmembrane receptor protein tyrosine kinase activity

Biological Process: activation of MAPK activity; activation of NF-kappaB transcription factor; cell proliferation; neuron development; peptidyl-tyrosine phosphorylation; phosphorylation; protein amino acid autophosphorylation; regulation of apoptosis; signal transduction; transmembrane receptor protein tyrosine kinase signaling pathway

Disease: Neuroblastoma, Susceptibility To, 3