IER3IP1 Chromosome 18
Immediate early response 3 interacting protein 1
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What This Gene Does
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]
Associated Conditions (5)
Microcephaly
epilepsy
and diabetes syndrome
IER3IP1-related disorder
and diabetes syndrome 1
Key Variants
RS149009126
Conflicting classifications of pathogenicity
Microcephaly, epilepsy, and diabetes syndrome
Health Risk
RS772039958
Conflicting classifications of pathogenicity
Microcephaly, epilepsy, and diabetes syndrome
Health Risk
RS387907012
Pathogenic/Likely pathogenic
Microcephaly, epilepsy, and diabetes syndrome
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149009126 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, epilepsy, and diabetes syndrome |
| RS772039958 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, epilepsy, and diabetes syndrome |
| RS387907012 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly, epilepsy, and diabetes syndrome |