LIN7C
Description
The LIN7C (lin-7 homolog C, crumbs cell polarity complex component) is a protein-coding gene located on chromosome 11.
LIN7C is a protein encoded by the LIN7C gene in humans. It has been shown to interact with DLG1, KCNJ12, and KCNJ4.
LIN7C plays a crucial role in establishing and maintaining the uneven distribution of channels and receptors on the surface of polarized cells. It forms multiprotein complexes that are attached to the membrane and regulate the delivery and recycling of proteins to specific membrane areas. Notably, a complex made of LIN7C, CASK, and APBA1 interacts with the motor protein KIF17, transporting vesicles containing the NMDA receptor subunit NR2B along microtubules. This complex may link synaptic vesicle release with cell adhesion in the brain. LIN7C ensures the correct placement of GRIN2B (NMDA receptor subunit 2B) within the neuronal postsynaptic density and might also help locate synaptic vesicles at synapses, where it is recruited by beta-catenin and cadherin. It is essential for localizing Kir2 channels, the GABA transporter (SLC6A12), and EGFR/ERBB1, ERBB2, ERBB3, and ERBB4 to the basolateral membrane of epithelial cells.
LIN7C is also known as LIN-7-C, LIN-7C, MALS-3, MALS3, VELI3.
Associated Diseases
- familial idiopathic steroid-resistant nephrotic syndrome
- nephronophthisis
- familial juvenile hyperuricemic nephropathy type 1
- multicystic dysplastic kidney
- congenital nephrotic syndrome, Finnish type
- Dent disease
- autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
