OPTN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human OPTN wild-type allele is located in the vicinity of 10p13 and is approximately 39 kb in length. This allele, which encodes optineurin protein, is involved in both Golgi maintenance and neuronal survival. Mutation of the gene is associated with both amyotrophic lateral sclerosis 12 and open angle glaucoma 1E.

**Synonyms:** - ALS12 - FIP2 - GLC1E - Glaucoma 1, Open Angle, E (Adult-Onset) Gene - HIP7 - HYPL - NRP - Optineurin wt Allele - RP11-730A19.1 - TFIIIA-INTP