Mutations in the EGLN1 gene, located on chromosome 1q42.2, are categorized by loss of catalytic function and abnormal erythropoietin expression, as well as association with erythrocytosis familial type 3 (ECYT3). Overexpression and nuclear translocation in EGLN1 have been associated with aggressive head and neck carcinomas. Other associated cancers include pheochromocytoma, adrenocortical cancer, breast cancer, kidney cancer, and cervical cancer.

Empire Genomics has developed a EGLN1 FISH Probe assay which can be used to detect EGLN1 gene aneusomy. The probe comes labeled in orange, and you may also choose to customize the probe to meet your needs.

** This product is for in vitro and research use only. This product is not intended for diagnostic use.

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SKU Test Kits Buffer Dye Color Order Now
EGLN1-20-OR  (Standard Design) 20 (40 μL) 200 μL
EGLN1-20-GO 20 (40 μL) 200 μL
EGLN1-20-GR 20 (40 μL) 200 μL
EGLN1-20-AQ 20 (40 μL) 200 μL
EGLN1-20-RE 20 (40 μL) 200 μL

Gene Summary

The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]

Gene Details

Gene Symbol: EGLN1

Gene Name: Egl-9 Family Hypoxia Inducible Factor 1

Chromosome: CHR1: 231499496-231560790

Locus: 1q42.2

FISH Probe Protocols

Protocol, Procedure, or Form Name Last Modified Download

Customer Publications

There are currently no FISH related publications for this gene.