Gene Symbol | IER3IP1 |
Entrez Gene ID | 51124 |
Full Name | immediate early response 3 interacting protein 1 |
Synonyms | HSPC039,MEDS,PRO2309 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes 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. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Microcephaly, epilepsy, and diabetes syndrome, 614231 (3) |