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SEC23IP / p125 is 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.
Gene Name: | SEC23 interacting protein |
Synonyms: | SEC23IP, p125A, SEC23 interacting protein, SEC23-interacting protein, p125, MSTP053 |
Target Sequences: | NM_007190 NP_009121.1 Q9Y6Y8 |
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