FERMT3

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]

Description

Fermitin family member 3

Tissue specificity

Tissue enhanced (bone marrow, lymphoid tissue)

Subcell location

Vesicles

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (64206678 - 64223891)

Ensembl ID

ENSG00000149781  (ver. 103.38)

Orthologs

Mouse Fermt3: ENSMUSG00000024965

UniProt

Q86UX7

neXtProt

NX_Q86UX7

Human splice variants
Mouse splice variants

Protein structure