Disease-gene associations mined from literature

Literature associating KANK1 and congenital fibrosis of the extraocular muscles

KANK1 [ENSP00000477725]

KN motif and ankyrin repeat domain-containing protein 1; Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration. Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competetive interaction with 14-3-3 adapter proteins to sequester them from active complexes. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competetive interaction with BAIAP2 to block its association with activated RAC1. Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma; Ankyrin repeat domain containing

Synonyms:  KANK1,  KANK1p,  hKANK1,  HKANK-L,  HKANK-L-000 ...

Linkouts:  STRING  Pharos  UniProt