Disease-gene associations mined from literature

Literature associating OCRL and buphthalmos

OCRL [ENSP00000360154]

Inositol polyphosphate 5-phosphatase OCRL-1; Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly; Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family.

Synonyms:  OCRL,  Q01968,  INPP5F,  OCRL1,  Q01968p ...

Linkouts:  STRING  Pharos  UniProt  OMIM