O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the POMT1 gene. It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases...

titin-related LGMD2J 608807 TTN Congenital myopathy LGMD R11 POMT1-related LGMD2K 609308 POMT1 Congenital muscular dystrophy An α-dystroglycanopathy LGMD...

included in this classification. Examples are the α-dystroglycanopathies (e.g. POMT1/POMT2-CDG (Walker-Warburg syndrome and Muscle-Eye-Brain syndrome)) with...

unknown. 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...

R8 TRIM 32-related LGMD R9 FKRP-related LGMD R10 titin-related LGMD R11 POMT1-related LGMD R12 anoctamin5-related LGMD R13 Fukutin-related LGMD R14 POMT2-related...

types 1-5 unknown likely AD MOMO syndrome ZEB2 AR Mowat–Wilson syndrome POMT1 AD Muscle–eye–brain disease type A 1-11 POMT2, POMGNT1, FKTN, FKRP, CRPPA...

Q8NAT1 12527 POMK HGNC:26267 Q9H5K3 12528 POMP HGNC:20330 Q9Y244 12529 POMT1 HGNC:9202 Q9Y6A1 12530 POMT2 HGNC:19743 Q9UKY4 12531 POMZP3 HGNC:9203 Q6PJE2...

syndrome (WWS) is the most severe dystroglycanopathy phenotype, with the POMT1 gene as the first reported causative gene, although there have been 11 additional...

Characteristic result of genetic test Major defected gene contributor POMGNT1 POMT1, POMT2 FKTN Minor defected gene contributor FKRP, FKTN FKRP, FCMD, LARGE...

O-mannosyltransferases of S. cerevisiae. For additional background information, see POMT1 (MIM 607423).[supplied by OMIM] GRCh38: Ensembl release 89: ENSG00000009830...

protein O-D-mannosyltransferase. A human gene that codes for this enzyme is POMT1. Babczinski P, Haselbeck A, Tanner W (1980). "Yeast mannosyl transferases...