DISEASES

Disease-gene associations mined from literature

Literature associating LOX and Schmid metaphyseal chondrodysplasia

LOX [ENSP00000231004]

Protein-lysine 6-oxidase, short form; Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin . Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity); Belongs to the lysyl oxidase family.

Synonyms:  LOX,  D0PNI2,  H0YAL3,  P28300,  D0PNI2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM