OPTN wt Allele

Preferred Label : OPTN wt Allele;

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

NCIt 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.;

GenBank Accession Number : AF420371;

Details

Origin ID

C119641;

UMLS CUI

C3889422;

Automatic exact mappings (from CISMeF team)
- Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia [OMIM Phenotype]
- Glaucoma, primary open angle [OMIM Phenotype]
- Neuropilin 1 [OMIM gene]
- Nucleosome assembly protein 1-like 1 [OMIM gene]
- Optineurin [OMIM gene]
- dormancy maintenance of symbiont in host [GO term]
- optineurin [ORDO Gene]
OMIM relation
- Optineurin [OMIM gene]
See also inter- (CISMeF)
- amyotrophic lateral sclerosis type 12 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Intracellular Transport [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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