title: Cellular and molecular biology of optineurin.
abstract: Optineurin is a gene linked to glaucoma, amyotrophic lateral sclerosis, other neurodegenerative diseases, and Paget's disease of bone. This review describes the characteristics of optineurin and summarizes the cellular and molecular biology investigations conducted so far on optineurin. Data from a number of laboratories indicate that optineurin is a cytosolic protein containing 577 amino acid residues. Interacting with proteins such as myosin VI, Rab8, huntingtin, transferrin receptor, and TANK-binding kinase 1, optineurin is involved in basic cellular functions including protein trafficking, maintenance of the Golgi apparatus, as well as NF-κB pathway, antiviral, and antibacteria signaling. Mutation or alteration of homeostasis of optineurin (such as overexpression or knockdown) results in adverse consequences in the cells, leading to the development of neurodegenerative diseases including glaucoma.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, College of Medicine, Chicago, Illinois, USA.
authors.forename: Hongyu
authors.initials: H
authors.lastname: Ying
authors.forename: Beatrice Y J T
authors.initials: BY
authors.lastname: Yue
mesh_terms: D000818:Animals; D000900:Anti-Bacterial Agents / Q000737:chemistry / Q000378:metabolism; D000998:Antiviral Agents / Q000737:chemistry / Q000378:metabolism; D018797:Cell Cycle Proteins; D006056:Golgi Apparatus / Q000737:chemistry / Q000378:metabolism; D006801:Humans; D026901:Membrane Transport Proteins; D021381:Protein Transport / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology; D035582:Transcription Factor TFIIIA / Q000737:chemistry* / Q000235:genetics / Q000502:physiology*
chemical_list: D000900:Anti-Bacterial Agents; D000998:Antiviral Agents; D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA