Aliases for SEC23IP Gene
External Ids for SEC23IP Gene
Previous GeneCards Identifiers for SEC23IP Gene
This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for SEC23IP Gene
SEC23IP (SEC23 Interacting Protein) is a Protein Coding gene. Diseases associated with SEC23IP include Waardenburg's Syndrome. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. An important paralog of this gene is DDHD2.
UniProtKB/Swiss-Prot for SEC23IP Gene
Plays a role in the organization of endoplasmic reticulum exit sites. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P) and phosphatidylinositol 5-phosphate (PI(5)P).