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Lowe Syndrome Mutation Database
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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
Comments, suggestions and problems to bioinformatics@nhgri.nih.gov
