Gene: FBLN1

Alternate names for this Gene: FBLN|FIBL1

Gene Summary: Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.31

Description of this Gene: fibulin 1

Type of Gene: protein-coding

rs1985671 in FBLN1 gene and Bipolar Disorder PMID 22365631 2012 Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.

rs1985671 in FBLN1 gene and Personality Traits PMID 22365631 2012 Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.

rs5765524 in FBLN1 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.