Recombinant Human Afadin (MLLT4), Truncated

Uniprot Id

P55196

Target Species

Human

Target Name

AFDN

Target Full Name

Afadin

Target Function

Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton. May play a key role in the organization of epithelial structures of the embryonic ectoderm. Essential for the organization of adherens junctions.

Target Involvement

A chromosomal aberration involving AFDN is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein.

Target Subcellular Location

Cell junction, adherens junction.

Target Synonyms

AF6; AFAD_HUMAN; Afadin; ALL1-fused gene from chromosome 6 protein; Mllt4; Protein Af-6; Protein AF6

Target Background

This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.