DISEASES

Disease-gene associations mined from literature

Literature associating TRABD2A and janus kinase-3 deficiency

TRABD2A [ENSP00000387075]

Metalloprotease TIKI1; Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation. Able to cleave WNT3A, WNT5, but not WNT11. Required for head formation.

Synonyms:  TRABD2A,  LOC105374836,  TRABD2Ap,  hTRABD2A,  C9IYB5 ...

Linkouts:  STRING  Pharos  UniProt