Probable ribosome biogenesis protein NEP1 or EMG1 is a protein that in humans is encoded by the EMG1 gene. A D86G mutation in the protein has been associated...
5 KB (464 words) - 02:22, 29 March 2024
children. The disease is due to an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly. The preponderance...
3 KB (292 words) - 21:09, 5 January 2024
Bowen–Conradi syndrome (BCS or BWCNS) is an autosomal recessive abnormality of the EMG1 gene, which plays a role in small ribosomal subunit (SSU) assembly. Most...
30 KB (2,436 words) - 20:52, 5 January 2024
HGNC:3331 P50402 4918 EME1 HGNC:24965 Q96AY2 4919 EME2 HGNC:27289 A4GXA9 4920 EMG1 HGNC:16912 Q92979 4921 EMID1 HGNC:18036 Q96A84 4922 EMILIN1 HGNC:19880 Q9Y6C2...
277 KB (17 words) - 23:17, 27 April 2024
Wöhnert J, Entian KD (March 2011). "The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly...
4 KB (450 words) - 15:45, 26 August 2023
Tollervey, D.; Van Tilbeurgh, H. (2007). "The yeast ribosome synthesis factor Emg1 is a novel member of the superfamily of alpha/Beta knot fold methyltransferases"...
11 KB (1,130 words) - 06:27, 15 July 2024
Bothnia retinal dystrophy; 607475; RLBP1 Bowen–Conradi syndrome; 211180; EMG1 Brachiootic syndrome 3; 608389; SIX1 Brachydactyly type A1; 112500; BDA1B...
234 KB (18,877 words) - 15:43, 9 May 2024
Wöhnert J, Entian KD (2011). "The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly...
118 KB (15,449 words) - 16:35, 18 July 2024