Disease-gene associations mined from literature

Literature associating TULP1 and Leber congenital amaurosis 8

TULP1 [ENSP00000229771]

Tubby-related protein 1; Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long-term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5- bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages; Belongs to the TUB family.

Synonyms:  TULP1,  TULP1p,  hTULP1,  A0A087WT25,  O00294 ...

Linkouts:  STRING  Pharos  UniProt  OMIM