EVX2 Rabbit Polyclonal Antibody, 100ul Protein Research Defects in this gene are

Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS)

HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates

specifically in tissue formation

Abnormal recombination between PRKX and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females

|miscellaneous:G0-restricted expression

EVX2 Rabbit Polyclonal Antibody, 100ul Protein Research Defects in this gene areThis gene is located at the 5' end of the HOXD gene cluster on chromosome 2. The encoded protein is a homeobox transcription factor that is related to the protein encoded by the Drosophila even skipped (eve) gene a member of the pair rule class of segmentation genes. A 117 kb microdeletion at the 5' end of the HOXD gene cluster which includes this gene and the HOXD9 HOXD13 genes causes synpolydactyly a dominantly inherited disease resulting in limb