HMCN1 gene

hemicentin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]

From UniProt:

Promotes cleavage furrow maturation during cytokinesis in preimplantation embryos. May play a role in the architecture of adhesive and flexible epithelial cell junctions. May play a role during myocardial remodeling by imparting an effect on cardiac fibroblast migration.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Age-related macular degeneration 1

From UniProt:

Macular degeneration, age-related, 1 (ARMD1): A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. [MIM:603075]

Cytogenetic Location: 1q25.3-q31.1, which is the long (q) arm of chromosome 1 between positions 25.3 and 31.1

Molecular Location: base pairs 185,734,526 to 186,190,953 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q25.3-q31.1, which is the long (q) arm of chromosome 1 between positions 25.3 and 31.1
  • ARMD1
  • FBLN6
  • FIBL-6
  • FIBL6