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OPTN gene

optineurin

Key facts

Official symbol
OPTN
Full name
OPTN
Chromosome
10
Map location
10p13
Organism
Homo sapiens
NCBI Gene ID
10133
Also known as
ALS12, FIP2, GLC1E, HIP7, HYPL, NRP

Function summary

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].

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Data source: NCBI Gene · alsesAI Gene Library