Reagents, Molecular Assay, Gene Anomaly, Deletion, ATP7A
Definition : Molecular assay reagents intended to identify deletions in the copper-transporting alpha polypeptide (ATP7A) gene, located in Xq13.2-q13.3, which encodes for a protein that regulates copper levels. Inherited deletions are present in males with disorders of copper transport such as Menkes' syndrome and, less frequently, with occipital horn syndrome (formerly Ehlers-Danlos syndrome type IX).
Entry Terms : "Ehlers-Danlos Syndrome Type IX Diagnostic Reagents" , "Occipital Horn Syndrome Diagnostic Reagents" , "Menkes Disease Diagnostic Reagents" , "ATP7A Gene Deletion Detection Reagents"
UMDC code : 24171