DISEASES

Disease-gene associations mined from literature

Literature associating INVS and pulmonary subvalvular stenosis

INVS [ENSP00000262457]

Inversion of embryo turning homolog; Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity); Ankyrin repeat domain containing

Synonyms:  INVS,  A0A024R153,  Q9Y283,  INV,  Q9Y283p ...

Linkouts:  STRING  Pharos  UniProt  OMIM