TPP1

OMIMHGNC

Synonym(s): CLN2, SCAR7

Locus: 11p15.4

Protein: Adrenocortical dysplasia protein homolog

 

Disorders

Tests

Test Type Method Laboratory
Tripeptidyl-peptidase 1 deficiency (TPP1) Test◦ Molecular
◦ Sequencing, Capillary
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic