EIF6
eukaryotic translation initiation factor 6
Summary
Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs762831219 | 20:33,867,394 | T/C | — | uncertain significance |
| rs375340263 | 20:33,867,505 | C/A | — | uncertain significance |
| rs138737811 | 20:33,867,529 | T/C | — | uncertain significance |
| rs619865 | 20:33,867,697 | A/T | — | — |
| rs771923186 | 20:33,867,800 | T/C | — | uncertain significance |
| rs374147852 | 20:33,867,824 | T/C | — | uncertain significance |
| rs144752898 | 20:33,867,861 | C/T | — | uncertain significance |
| rs754043227 | 20:33,867,920 | T/A | — | uncertain significance |
| rs138400954 | 20:33,868,487 | G/A | — | likely benign |
| rs201479805 | 20:33,868,527 | C/T | — | uncertain significance |
| rs748835660 | 20:33,868,555 | T/C | — | uncertain significance |
| rs773641573 | 20:33,868,572 | C/T | — | uncertain significance |
| rs780436734 | 20:33,868,594 | C/T | — | uncertain significance |
| rs754663629 | 20:33,872,015 | T/C | — | uncertain significance |
| rs144868364 | 20:33,872,191 | A/G | — | uncertain significance |
| rs143234154 | 20:33,872,238 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.