Six5 Polyclonal Antibody, 50ul Immunology Mutations in TP63 are associated

Mutations in TP63 are associated with ectodermal dysplasia

This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development

This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate

This rearrangement produces the p80HT gene which encodes for a truncated 80 kDa protein (p80HT)

Six5 Polyclonal Antibody, 50ul Immunology Mutations in TP63 are associatedSIX homeobox 5 encoded by SIX5 is a homeodomain containing transcription factor that appears to function in the regulation of organogenesis. SIX5 is located downstream of the dystrophia myotonica protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2.