IF6 Polyclonal Antibody, 100ul Immune Repertoire Sequencing Fechtner syndrome and macrothrombocytopenia with

Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness

AKR1C3 (aldo-keto reductase family 1 member C3) encodes a member of the aldo/keto reductase superfamily

5'-nucleotidase ecto encoded by NT5E is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides

The encoded protein is a type II membrane protein

COL5A2 encodes an alpha chain for one of the low abundance fibrillar collagens

IF6 Polyclonal Antibody, 100ul Immune Repertoire Sequencing Fechtner syndrome and macrothrombocytopenia withHemidesmosomes 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