Disease-gene associations mined from literature

Literature associating PORCN and syndromic microphthalmia

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; Membrane bound O-acyltransferases

Synonyms:  PORCN,  B7ZAR3,  C9JWI5,  F2Z360,  F8VTB3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM