LIN7C

Chr 11

lin-7 cell polarity scaffold C

Also known as: LIN-7-C, LIN-7C, MALS-3, MALS3, VELI3

NCBI Gene: 55327 ENSG00000148943 UniProt: Q9NUP9

The LIN7C protein establishes and maintains asymmetric distribution of channels and receptors at neuronal synapses and epithelial cell membranes, forming complexes that regulate protein trafficking and localization including NMDA receptors and ion channels. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.8), and the condition primarily affects brain development and function.

ResearchSummary from RefSeq, UniProt

Enables L27 domain binding activity and cytoskeletal protein binding activity. Involved in morphogenesis of an epithelial sheet. Located in cell-cell junction; cytoplasm; and plasma membrane. Part of MPP7-DLG1-LIN7 complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.80

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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