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)

This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins

Inhibited by dual specificity phosphatases

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

ThAKAP8 encodes a nuclear A-kinase anchor protein (A-kinase anchoring protein 8) that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin

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