Ontology highlight
ABSTRACT:
SUBMITTER: Pang J
PROVIDER: S-EPMC3032074 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
American journal of human genetics 20100601 6
Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identified in all UFS patients originating from Colombia, the United States, and France. HPSE2 encodes a 592 aa protein that contains a domain showing sequence homology to the glycosyl hydrolase motif in the ...[more]