Gene: EGLN1

Alternate names for this Gene: C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6

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).

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.2

Description of this Gene: egl-9 family hypoxia inducible factor 1

Type of Gene: protein-coding

rs119476044 in EGLN1 gene and Erythrocytosis, Familial, 3 PMID 22274579 2012 Clinical utility gene card for: familial erythrocytosis.

PMID 17579185 2007 A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.

PMID 16407130 2006 A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.

rs533281866 in EGLN1 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs533281866 in EGLN1 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs508618 in EGLN1 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.