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IER3IP1 is a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12.
Gene Name: | immediate early response 3 interacting protein 1 |
Synonyms: | IER3IP1, HSPC039, MEDS, PRO2309 |
Target Sequences: | NM_016097 NP_057181.1 Q9Y5U9 |
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