DISEASES

Disease-gene associations mined from literature

Literature associating DMTN and hereditary spherocytosis

DMTN [ENSP00000427866]

Erythrocyte membrane protein band 4.9; Membrane-cytoskeleton-associated protein with F-actin- binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Plays also a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation.

Synonyms:  DMTN,  B4DI75,  E5RFK6,  E5RGQ0,  E5RGQ7 ...

Linkouts:  STRING  Pharos  UniProt