FERMT3 gene

fermitin family member 3

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

From NCBI Gene:

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. [provided by RefSeq, Jan 2010]

From UniProt:

Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity).

Isoform 2 may act as a repressor of NF-kappa-B and apoptosis.

From NCBI Gene:

  • Leukocyte adhesion deficiency, type III

From UniProt:

Leukocyte adhesion deficiency 3 (LAD3): A disorder characterized by recurrent bacterial infections without pus formation, leukocytosis and major bleeding disorders. [MIM:612840]

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1

Molecular Location: base pairs 64,205,920 to 64,223,891 on chromosome 11 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 11q13.1, which is the long (q) arm of chromosome 11 at position 13.1
  • KIND3
  • MIG-2
  • MIG2B
  • UNC112C
  • URP2
  • URP2SF