DISEASES

Disease-gene associations mined from literature

Literature associating FRMD8 and palmoplantar keratoderma-esophageal carcinoma syndrome

FRMD8 [ENSP00000319726]

FERM domain-containing protein 8; Promotes the cell surface stability of iRhom1/RHBDF1 and iRhom2/RHBDF2 and prevents their degradation via the endolysosomal pathway. By acting on iRhoms, involved in ADAM17-mediated shedding of TNF, amphiregulin/AREG, HBEGF and TGFA from the cell surface . Negatively regulates Wnt signaling, possibly by antagonizing the recruitment of AXIN1 to LRP6 .

Synonyms:  FRMD8,  FRMD8p,  hFRMD8,  E9PRA3,  E9PRP1 ...

Linkouts:  STRING  Pharos  UniProt