Disease-gene associations mined from literature

Literature associating SYMPK and isolated microphthalmia 4

SYMPK [ENSP00000245934]

Symplekin; Scaffold protein that functions as a component of a multimolecular complex involved in histone mRNA 3'-end processing. Specific component of the tight junction (TJ) plaque, but might not be an exclusively junctional component. May have a house- keeping rule. Is involved in pre-mRNA polyadenylation. Enhances SSU72 phosphatase activity; Belongs to the Symplekin family.

Synonyms:  SYMPK,  A0A024R0R6,  M0QXP5,  M0R039,  M0R180 ...

Linkouts:  STRING  Pharos  UniProt  OMIM