DISEASES

Disease-gene associations mined from literature

Literature associating PARVB and distal muscular dystrophy with anterior tibial onset

PARVB [ENSP00000384515]

Beta-parvin; Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration. ECO:0000269|PubMed:15005707, ECO:0000269|PubMed:15159419,; Belongs to the parvin family.

Synonyms:  PARVB,  A0A087WZB5,  B0QYP8,  Q9HBI1,  B0QYP8p ...

Linkouts:  STRING  Pharos  UniProt  OMIM