Gene: FERMT3

Alternate names for this Gene: KIND3|MIG-2|MIG2B|UNC112C|URP2|URP2SF

Gene Summary: Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: fermitin family member 3

Type of Gene: protein-coding

rs12575642 in FERMT3 gene and Attention deficit hyperactivity disorder PMID 21784300 2011 Genome-wide association study of the child behavior checklist dysregulation profile.

rs149000560 in FERMT3 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs142815441 in FERMT3 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.