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IER3IP1

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.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Proximal tubular cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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