MYH11

MYH11

A gene on chromosome 16p13.11 that encodes a heavy chain of myosin and is thus involved in cytokinesis, cell shape and specialised functions—e.g., secretion and capping.
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The results showed that Karyogene could successfully detect the more common fusion genes including promyelocytic leukemia ( PML ) retinoic acid receptor ( RARA ), core-binding factor beta ( CBFB ) myosin heavy chain 11 ( MYH11 ), RUNX1- RUNX1 translocation partner 1 ( RUNX1T1 ), and histone-lysine n-methyltransferase 2A ( KMT2A ), with 100% sensitivity and specificity.
Caracteristicas del sindrome de Marfan y otros diagnosticos diferenciales Diagnostico diferencial Genes con mutaciones Patron conocidas hereditario SM FBN1 AD Homocistinuria clasica CBS AR (tipo 1) (6) Sindrome de tortuosidad SLC2A10 AD arterial Aracnodactilia FBN2 AD contractural congenita Sindrome de Stickler (7) COL2A1-COL11A1 y COLllA2 AD Sindrome de Lujan-Fryns Desconocido RLX (8) Sindrome de Achard Desconocido AD Fenotipo MASS FBN1 AD Sindrome de Loeys-Dietz TGFBR1/2 AD Sindrome de Ehlers Danlos COL3A1, COL1A2, PLOD) AD tipos IV, VI, VII Sindrome de FBN1 AD Shprintzen-Goldberg Sindrome de aneurisma y TGFBR1/2 ACTA2 FBN1 MYH11 AD diseccion aortica toracica familiar Sindrome de prolapso de No se conoce un AD la valvula mitral (9) gen especifico.
Detection of AML1-ETO fusion transcript or CBF [beta]/ MYH11 also helped in diagnosis of AML subtypes.
Both inv(16) and t(16;16) result in fusion of CBFB and MYH11, (54) either by inversion within a single chromosome 16 or by translocation between homologs.