Appl1 gene

Authors: Prof. Dr. med. Peter Altmeyer, Prof. Dr. med. Martina Bacharach-Buhles

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Last updated on: 29.10.2020

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Adapator protein, phosphotyrosine interacting with PH domain and leucine zipper 1; OMIM 604299

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The APPL1 gene, located on chromosome 3p14.3, encodes the adaptor protein in insulin and the adiponectin signalling pathway. The APPL1 protein is associated with endosomal membranes, but can be released by EGF and translocated into the cell nucleus. The adaptor protein regulates many processes such as cell proliferation and cell metabolism. Acts as a positive regulator of the innate immune response by activating the AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (by similarity). Plays a role in cell metabolism by regulating the adiponectin and insulin signalling pathways. Heterozygously inherited mutations in the APPL1 gene lead to the clinical picture MODY 14.

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A clear description of the clinical symptoms of MODY types 6-11 and 14 (NEUROD1, KLF11, CEL, PAX4, INS, BLK and APPL1) is only possible to a limited extent due to the rarity of the genotypes. Since not all patients with MODY diabetes were found to have mutations in the previously known genes, it is assumed that there are other previously unknown genes associated with MODY.

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