Gene: GSN

Alternate names for this Gene: ADF|AGEL

Gene Summary: The protein encoded by this gene binds to the 'plus' ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q33.2

Description of this Gene: gelsolin

Type of Gene: protein-coding

rs76331566 in GSN gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs10985207 in GSN gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs121909715 in GSN gene and Meretoja syndrome PMID 1338910 1992 Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.

PMID 2176481 1990 Gelsolin variant (Asn-187) in familial amyloidosis, Finnish type.