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The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2 and coding for the catalytic domain, is fused to the 5' portion of NPM from chromosome 5. The product of the NPM-ALK fusion gene is oncogenic.
ALK positive lung cancer is a primary malignant lung tumor whose cells contain a characteristic abnormal configuration of DNA wherein, most frequently, the echinoderm microtubule-associated protein-like 4 gene is fused to the anaplastic lymphoma kinase (ALK) gene.
76768 Ensembl ENSG00000163283 ENSMUSG00000079440 UniProt P05187 F8VPQ6 RefSeq (mRNA) NM_001632 NM_001081082 RefSeq (protein) NP_001623 NP_001074551 Location (UCSC) Chr 2: 232.38 – 232.38 Mb Chr 1: 87.03 – 87.03 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Alkaline phosphatase, placental type also known as placental alkaline phosphatase (PLAP) is an allosteric enzyme that in ...
The enzyme alkaline phosphatase (ALP, alkaline phenyl phosphatase) is a phosphatase with the physiological role of dephosphorylating compounds. The enzyme is found across a multitude of organisms, prokaryotes and eukaryotes alike, with the same general function, but in different structural forms suitable to the environment they function in. Alkaline phosphatase is found in the periplasmic ...
ALK inhibitors are anti-cancer drugs that act on tumours with variations of anaplastic lymphoma kinase (ALK) such as an EML4-ALK translocation. [1] They fall under the category of tyrosine kinase inhibitors , which work by inhibiting proteins involved in the abnormal growth of tumour cells.
Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; it is also known as ALK-2 (activin receptor-like kinase-2). [5] ACVR1 has been linked to the 2q23-24 region of the genome. [ 6 ]
The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia (HHT) type 2, also known as Rendu-Osler-Weber syndrome 2 ...
Upregulation of ALK is mainly due to chromosomal translocation t(2;17), resulting in a fusion gene of CLTC with ALK, [4] [7] but can rarely be due to t(2;5), fusing NPM1 with ALK; [2]: 378 the later is the usual finding in anaplastic large cell lymphoma (ALCL).
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