LEBER OPTIC ATROPHY
\lˈɛbəɹ ˈɒptɪk ˈatɹəfi], \lˈɛbəɹ ˈɒptɪk ˈatɹəfi], \l_ˈɛ_b_ə_ɹ ˈɒ_p_t_ɪ_k ˈa_t_ɹ_ə_f_i]\
Sort: Oldest first
-
A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
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.