IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, ZIC2
Definition : Molecular assay reagents intended to identify mutations in the Zic family member 2 (ZIC2) gene, located at chromosome 13q32, which encodes for a protein that functions as a transcriptional repressor and may regulate tissue-specific expression of the dopamine receptor D1. This inherited genetic mutation has been identified in patients with early-onset holoprosencephaly-5.
Entry Terms : "Holoprosencephaly-5 (HPE-5) Gene Mutation Reagents" , "ZIC2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, ZIC2"
UMDC code : 25013