Variants
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ALK Gene

ALK receptor tyrosine kinase

ALIAS SYMBOLS

  • CD246

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Description

The ALK gene provides instructions for making a protein called ALK receptor tyrosine kinase, which is part of a family of proteins called receptor tyrosine kinases (RTKs). Receptor tyrosine kinases transmit signals from the cell surface into the cell through a process called signal transduction. The process begins when the kinase is stimulated at the cell surface and then attaches to a similar kinase (dimerizes). After dimerization, the kinase is tagged with a marker called a phosphate group (a cluster of oxygen and phosphorus atoms) in a process called phosphorylation. Phosphorylation turns on (activates) the kinase. The activated kinase is able to transfer a phosphate group to another protein inside the cell, which is activated as a result. The activation continues through a series of proteins in a signaling pathway. These signaling pathways are important in many cellular processes such as cell growth and division (proliferation) or maturation (differentiation).

Although the specific function of ALK receptor tyrosine kinase is unknown, it is thought to act early in development to help regulate the proliferation of nerve cells.

CHROMOSOME

2


LOCATION

p23.2-p23.1


LOCUS TYPE

gene with protein product

VARIANTS

2,106

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Phenotypes

External Links

  • HGNC

    HGNC:427

  • NCBI

    238

  • OMIM

    105590

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