Aliases for LLGL1 Gene
External Ids for LLGL1 Gene
Previous HGNC Symbols for LLGL1 Gene
Previous GeneCards Identifiers for LLGL1 Gene
This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
GeneCards Summary for LLGL1 Gene
LLGL1 (LLGL1, Scribble Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with LLGL1 include Smith-Magenis Syndrome and Adiaspiromycosis. Among its related pathways are Actin Nucleation by ARP-WASP Complex and PI3K-Akt signaling pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and structural molecule activity. An important paralog of this gene is LLGL2.
UniProtKB/Swiss-Prot for LLGL1 Gene
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.