Article
Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
PloS one - 1 Jan 2012
Gazzerro Elisabetta, Baldassari Simona, Giacomini Caterina, Musante Veronica, Fruscione Floriana, La Padula Veronica, Biancheri Roberta, Scarfì Sonia, Prada Valeria, Sotgia Federica, Duncan Ian D, Zara Federico, Werner Hauke B, Lisanti Michael P, Nobbio Lucilla, Corradi Anna, Minetti Carlo
Abstract excerpt
"Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biological role has not been clarified yet. Since the identification of the cell types expressing a protein of unknown function can contribute to define the physiological...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.