DISEASES

Disease-gene associations mined from literature

Literature associating CSRP3 and myofibrillar myopathy

CSRP3 [ENSP00000431813]

Cysteine and glycine-rich protein 3; Positive regulator of myogenesis. Acts as cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integerity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin- mediated depolymerization; the function seems to involve its self- association . In vitro can inhibit PKC/PRKCA activity . Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity). ECO:0000269|PubMed:19752190, ECO:0000269|PubMed:24934443,

Synonyms:  CSRP3,  CSRP3p,  hCSRP3,  A0A3B3IRI5,  A0A3B3ISZ2 ...

Linkouts:  STRING  Pharos  UniProt