Lowe Syndrome Mutation Database

Database of the OCRL1 Mutations Causing Lowe Syndrome

Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105-kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5-phosphatase activity. A database of mutations causing Lowe syndrome has been established. Information on new mutations may be submitted online.

• OCRL1 mutation database
• Reported OCRL1 mutations causing Lowe Syndrome
• Numbering of exons, nucleic acid sequence, and protein sequence used in this database
• List of investigators
• References
• Other Resources
• Submit a new mutation