Diagnostic Screening for Disorders of the ER-to-Golgi Trafficking

This technology describes Cranio-lenticulo-sutural dysplasia (CLSD) as a novel autosomal recessive syndrome, and identifies a missense mutation in SEC23A segregating with this syndrome. SEC23A is an essential component of the COPII-coated vesicles that transport secretory proteins from the endoplasmic reticulum (ER) to the Golgi complex. A secretory defect of a distinct set of cargo proteins required for normal morphogenesis appears to accounts for CLSD. Description (Set) Proposed Use (Set) Rapid and cost effective identification of human disorders due to abnormal intracellular ER-to-Golgi Patent (Set) WO 2007/139776

Inventor(s): Boyd, Simeon

Type of Offer: Licensing

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