Optineurin (OPTN) Antibody – Rabbit Polyclonal

This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

optineurin: Plays an important role in the maintenance of the Golgi complex, in membrane trafficking, in exocytosis, through its interaction with myosin VI and Rab8. Links myosin VI to the Golgi complex and plays an important role in Golgi ribbon formation. Negatively regulates the induction of IFNB in response to RNA virus infection. Plays a neuroprotective role in the eye and optic nerve. Probably part of the TNF-alpha signaling pathway that can shift the equilibrium toward induction of cell death. May act by regulating membrane trafficking and cellular morphogenesis via a complex that contains Rab8 and hungtingtin (HD). May constitute a cellular target for adenovirus E3 14.7, an inhibitor of TNF-alpha functions, thereby affecting cell death. Defects in OPTN are the cause of primary open angle glaucoma type 1E (GLC1E). Primary open angle glaucoma (POAG) is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Defects in OPTN are a cause of susceptibility to normal pressure glaucoma (NPG). Defects in OPTN are the cause of amyotrophic lateral sclerosis type 12 (ALS12). It is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Inhibitor

Chromosomal Location of Human Ortholog: 10p13

Cellular Component: nucleoplasm; Golgi membrane; Golgi apparatus; recycling endosome; perinuclear region of cytoplasm; cytoplasm; cytoplasmic membrane-bound vesicle; autophagic vacuole; trans-Golgi network; nucleus; cytosol

Molecular Function: protein C-terminus binding; protein binding; polyubiquitin binding; Rab GTPase binding

Biological Process: cell death; macroautophagy; Golgi to plasma membrane protein transport; negative regulation of receptor recycling; mitotic cell cycle; protein targeting to Golgi; negative regulation of I-kappaB kinase/NF-kappaB cascade; G2/M transition of mitotic cell cycle; regulation of I-kappaB kinase/NF-kappaB cascade; defense response to Gram-negative bacterium; signal transduction; Golgi organization and biogenesis

Disease: Glaucoma, Normal Tension, Susceptibility To; Glaucoma, Primary Open Angle; Amyotrophic Lateral Sclerosis 12