OPTIC ATROPHY TYPE 1
\ˈɒptɪk ˈatɹəfi tˈa͡ɪp wˈɒn], \ˈɒptɪk ˈatɹəfi tˈaɪp wˈɒn], \ˈɒ_p_t_ɪ_k ˈa_t_ɹ_ə_f_i t_ˈaɪ_p w_ˈɒ_n]\
Sort: Oldest first
-
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.