HMCN1


Description

The HMCN1 (hemicentin 1) is a protein-coding gene located on chromosome 1.

Hemicentin-1 is a protein encoded by the HMCN1 gene in humans. It is a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites, involved in processes like germline syncytium stabilization, mechanosensory neuron anchorage, and hemidesmosome organization. Mutations in this gene may be associated with age-related macular degeneration.

Hemicentin-1, also known as Fibulin-6, is involved in transforming growth factor beta-mediated rearrangement of the podocyte cytoskeleton, leading to a reduction in F-actin fibers and a broadening, flattening, and elongation of podocytes. It also plays a role in basement membrane organization, may promote cleavage furrow maturation during cytokinesis in preimplantation embryos, may contribute to the architecture of adhesive and flexible epithelial cell junctions, and may play a role during myocardial remodeling by influencing cardiac fibroblast migration.

HMCN1 is also known as ARMD1, FBLN6, FIBL-6, FIBL6.

Associated Diseases


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