DISEASES

Disease-gene associations mined from literature

Literature associating LLGL1 and Potocki-Lupski syndrome

LLGL1 [ENSP00000321537]

Lethal giant larvae homolog 1 (Drosophila); Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane.

Synonyms:  LLGL1,  LLGL1p,  hLLGL1,  A0PJG1,  Q15334 ...

Linkouts:  STRING  Pharos  UniProt  OMIM