O-mannosyl-transferase 2 is an enzyme that in humans is encoded by the POMT2 gene. POMT2 encodes an integral membrane protein of the endoplasmic reticulum...
7 KB (649 words) - 02:52, 3 December 2023
this classification. Examples are the α-dystroglycanopathies (e.g. POMT1/POMT2-CDG (Walker-Warburg syndrome and Muscle-Eye-Brain syndrome)) with deficiencies...
41 KB (3,740 words) - 23:31, 13 August 2024
Congenital muscular dystrophy An α-dystroglycanopathy LGMD R14 POMT2-related LGMD2N 607439 POMT2 Congenital muscular dystrophy An α-dystroglycanopathy LGMD...
35 KB (2,786 words) - 02:50, 22 July 2024
POMT1-related LGMD R12 anoctamin5-related LGMD R13 Fukutin-related LGMD R14 POMT2-related LGMD R15 POMGnT1-related LGMD R16 α-dystroglycan-related LGMD R17...
9 KB (899 words) - 01:15, 30 January 2023
Several mutations were found in the protein O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related...
8 KB (682 words) - 05:46, 6 July 2024
AR Mowat–Wilson syndrome POMT1 AD Muscle–eye–brain disease type A 1-11 POMT2, POMGNT1, FKTN, FKRP, CRPPA, POMGNT2, DAG1, RXYLT1, B3GALNT2 AR NHS XLD...
13 KB (538 words) - 09:46, 18 March 2024
there have been 11 additional genes implicated in WWS. These genes include POMT2, FKRP, FKTN, ISPD, CTDC2, TMEM5, POMGnT1, B3GALnT2, GMPPB, B3GnT1, and SGK196...
34 KB (3,524 words) - 14:14, 13 August 2024
Characteristic result of genetic test Major defected gene contributor POMGNT1 POMT1, POMT2 FKTN Minor defected gene contributor FKRP, FKTN FKRP, FCMD, LARGE, ISPD...
33 KB (3,533 words) - 20:13, 14 August 2024
Q9H5K3 12529 POMP HGNC:20330 Q9Y244 12530 POMT1 HGNC:9202 Q9Y6A1 12531 POMT2 HGNC:19743 Q9UKY4 12532 POMZP3 HGNC:9203 Q6PJE2 12533 PON1 HGNC:9204 P27169...
282 KB (17 words) - 07:55, 20 June 2024
mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity". Proceedings of the National Academy of...
9 KB (1,019 words) - 06:44, 27 March 2022