Bioinformatics Assignment Human Genome Databases

12 Pages • Essays / Projects • Year: Pre-2021

Alk is a gene found in the human body known to making the protein anaplastic lymphoma kinase, it can also be known simply as CD246. Alk is located on Chromosome 2 in the position 29,192,77429,921,566 on the reverse strand. It contains 6 transcripts and is associated with 77 phenotypes (2). Alk is a tyrosine kinase receptor and is closely related to leukocyte tyrosine kinase as it is a member of the insulin receptor super family. Being a tyrosine kinase enzyme its function it to act as an on and off switch in cellular functions. Alk is a very important gene in the human body with its most important function being in the development of the brain as well as having an impact on neurons within the nervous system (2). Alk can regulate and proliferate specific nerve cells where signals are conducted via signal transduction that occurs in the body. Downstream signalling from Alk fusion proteins are involved in certain cell proliferation and cell survival pathway suggesting that Alk is critical in the initiation and progressions of neuroblastoma (1). Although it is involved in several different functions there are certain mutation involved with this gene that can occur by being rearranged, mutated or amplified and can cause several pathogenesis. (1) Chromosomal rearrangement is the most common genetic alteration where fusion of eml4-alk occur. (4). This then codes for an abnormal protein called tyrosine kinase which send signals to cells to grow, divide and multiply causing the grown of cancer cells. such as a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer (3). To inhibitor this Alk gene, inhibitors are available to help with the treatment of cancers caused by this gene defect, such inhibitor called crizotinib have been approved for treatment in Alk positive non-small cell lung cancer allowing patients with non-small cell lung to be treated (4). Further identification of this gene will be discovered with the use of ensemble a genome browser which is used to discover different human genes and other animal’s species. Ensembl is used in order to help support research in comparative genomics, evolution, sequence variation and transcriptional regulation to help identify information regarding the specific gene of interest.

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