Disease-gene associations mined from literature

Literature associating THSD4 and autosomal recessive isolated ectopia lentis 2

THSD4 [ENSP00000347484]

A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6; Promotes FBN1 matrix assembly. Attenuates TGFB signaling, possibly by accelerating the sequestration of large latent complexes of TGFB or active TGFB by FBN1 microfibril assembly, thereby negatively regulating the expression of TGFB regulatory targets, such as POSTN (By similarity); ADAMTS like

Synonyms:  THSD4,  THSD4p,  hTHSD4,  Q6ZMP0,  Q6ZMP0p ...

Linkouts:  STRING  Pharos  UniProt