LLGL1

Chr 17

LLGL scribble cell polarity complex component 1

Also known as: DLG4, HUGL, HUGL-1, HUGL1, LLGL, Lgl1, Mgl1

NCBI Gene: 3996 ENSG00000131899 UniProt: Q15334 OMIM: 600966

The protein maintains cell polarity and epithelial integrity as part of the cortical cytoskeleton, regulates mitotic spindle orientation in neuroepithelial cells, and is involved in axonogenesis through regulation of vesicular trafficking. Mutations cause autosomal recessive congenital hydrocephalus with severe developmental delays and brain malformations. This gene is highly intolerant to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.53

LOEUF

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Mechanism