ACTA2

ACTA2

A gene on chromosome 10q23.3 that encodes alpha actin 2, which is expressed in skeletal muscle.
 
Molecular pathology
ACTA2 mutations cause multisystemic smooth muscle dysfunction syndrome and aortic aneurysm familial forensic type 6.
References in periodicals archive ?
Congenital mydriasis and Prune Belly syndrome in a child with an ACTA2 mutation.
4] Human genes: APOA5, apolipoprotein A-V; PDGFRB, platelet-derived growth factor receptor beta; LDLRAP1, low density lipoprotein receptor adaptor protein 1; MMP9, matrix metallopeptidase 9; VEGFA, vascular endothelial growth factor A; ACTA2, actin, alpha 2, smooth muscle, aorta; APOC3, apolipoprotein C-III; CAV1, caveolin 1; CD40, CD40 molecule; CETP, cholesterol ester transfer protein, plasma; CIITA, class II, major histocompatibility complex, transactivator; FGG, fibrinogen gamma chain; GPX1, glutathione peroxidase 1; LPL, lipoprotein lipase; MBL2, mannose-binding lectin (protein C)2,soluble; MVK, mevalonate kinase; PITX2, paired like homeodomain 2; TNFRSF1A, tumor necrosis factor receptor superfamily, member 1A; UCP2, uncoupling protein 2 (mitochondrial, protein carrier).
En la evaluacion genomica de las celulas MCF-7 y los potenciales blancos del miR-21 se identificaron algunos RNAm reguladores de p53, en los que se incluyen FAM3C, ACTA2, APAF1, BTG2, FAS, CDKN1A (p21), PDCD4 y SESN1, sugiriendo un vinculo funcional entre el miR-21 y la via supresora de tumor de p53 (Frankel et al.
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.
During the study, the researchers examined 127 members of 20 families from around the world who had ACTA2 mutations.
THSG reduces intima-media thickness in the aortic arch of SHRs, increases the vascular diastolic rate in response to acetylcholine, and reduces remodeling and fibrosis-related mRNA expression, such as that of genes ACTA2, CCL3, COL1A2, COL3A1, TIMP1 WISP2, IGFBP1, ECE1, KLF5, MYL1 BMP4, FN1, and the plasminogen activator inhibitor-1 (PAI-1).