Fermitin Family, Member 3

Alternative Names

  • FERMT3
  • UNC112-Related Protein 2
  • URP2
  • Kindlin 3
  • KIND3
  • MIG2B
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OMIM Number

607901

NCBI Gene ID

83706

Uniprot ID

Q86UX7

Length

17,972 bases

No. of Exons

18

No. of isoforms

2

Protein Name

Fermitin family homolog 3

Molecular Mass

75953 Da

Amino Acid Count

667

Genomic Location

chr11:64,205,920-64,223,891

Gene Map Locus
11q13.1

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_031471.6:c.48G>AUnited Arab EmiratesNC_000011.10:g.64207412G>APathogenicPathogenicLeukocyte Adhesion Deficiency, Type IIING_016360.1:g.5733G>A; NM_031471.6:c.48G>A; NP_113659.3:p.Trp16Ter1219182962709
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