DISEASES

Disease-gene associations mined from literature

Literature associating PORCN and syndactyly

PORCN [ENSP00000322304]

Protein-serine O-palmitoleoyltransferase porcupine; Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors. ECO:0000269|PubMed:12034504, ECO:0000269|PubMed:20826466,

Synonyms:  PORCN,  C9JWI5,  F2Z360,  F8VTB3,  F8WEW7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM