3-N-acetylgalactosaminyltransferase 2 is a protein that in humans is encoded by the B3GALNT2 gene. This gene encodes a member of the glycosyltransferase 31 family....
2 KB (183 words) - 21:45, 31 October 2023
linked to this condition is Beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2). Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic...
8 KB (682 words) - 05:46, 6 July 2024
HGNC:913 P20160 1358 B2M HGNC:914 P61769 1359 B3GALNT1 HGNC:918 O75752 1360 B3GALNT2 HGNC:28596 Q8NCR0 1361 B3GALT1 HGNC:916 Q9Y5Z6 1362 B3GALT2 HGNC:917 O43825...
277 KB (17 words) - 23:17, 27 April 2024
WWS. These genes include POMT2, FKRP, FKTN, ISPD, CTDC2, TMEM5, POMGnT1, B3GALnT2, GMPPB, B3GnT1, and SGK196, many of which have been identified as involved...
34 KB (3,524 words) - 14:14, 13 August 2024
type A 1-11 POMT2, POMGNT1, FKTN, FKRP, CRPPA, POMGNT2, DAG1, RXYLT1, B3GALNT2 AR NHS XLD Nance–Horan syndrome RERE AD Neurodevelopment disorder with...
13 KB (538 words) - 09:46, 18 March 2024
globotriosylceramide beta-1,3-GalNAc transferase (EC 2.4.1.79). B3GALNT1; B3GALNT2; B3GALT1; B3GALT2; B3GALT4; B3GALT5; B3GALT6; B3GNT2; B3GNT3; B3GNT4; B3GNT5;...
4 KB (410 words) - 04:30, 18 May 2024