Gene: HMCN1

Alternate names for this Gene: ARMD1|FBLN6|FIBL-6|FIBL6

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3-q31.1

Description of this Gene: hemicentin 1

Type of Gene: protein-coding

rs17531405 in HMCN1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16824658 in HMCN1 gene and Cholecystolithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs16824658 in HMCN1 gene and Cholelithiasis PMID 17632509 2007 A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.

rs121434382 in HMCN1 gene and Macular Degeneration, Age-Related, 1 PMID 14570714 2003 Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.

rs2057388 in HMCN1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.