PAH Polyclonal Antibody, 100ul Liquid Storage Consumables Mutations in COL5A3 are thought

Mutations in COL5A3 are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III

differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence

This gene encodes a member of the Armadillo protein family

Myocyte enhancer factor 2A encoded by MEF2A is a DNA-binding transcription factor that activates many muscle-specific

PAH Polyclonal Antibody, 100ul Liquid Storage Consumables Mutations in COL5A3 are thoughtPAH encodes the enzyme phenylalanine hydroxylase that is the rate limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria.