DISEASES

Disease-gene associations mined from literature

Literature associating PTCH1 and Brooke-Spiegler syndrome

PTCH1 [ENSP00000332353]

Protein patched homolog 1; Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis; Belongs to the patched family.

Synonyms:  PTCH1,  PTCH1p,  hPTCH1,  A3KBF6,  F8VPA3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM