Kindlin 3 (KIND3)

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. The deduced 663-amino acid protein has a calculated molecular mass of about 75.4 kD. URP2 shares 55.4% identity with MIG2 and 58.7% identity with URP1. All 3 proteins share weak but significant homology with talin-1 and talin-2. Northern blot analysis detected strong expression of a 2.7-kb URP2 transcript in thymus, spleen, and leukocytes, weaker expression in lung and placenta, and little to no expression in other tissues.