ERLEC1 Chromosome 2

Endoplasmic reticulum lectin 1

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]

Gene Info

Gene Group

MRH domain containing

Locus Type

gene with protein product

Location

2p16.2

Ensembl

ENSG00000068912

Associated Conditions (1)

Mandibular prognathia

Key Variants

RS1373789245

Likely pathogenic

Mandibular prognathia, Mandibular prognathia

Health Risk

RS146951835

Likely pathogenic

Mandibular prognathia, Mandibular prognathia

Health Risk

RS751933066

Likely pathogenic

Mandibular prognathia, Mandibular prognathia, Mandibular prognathia

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1373789245	Health Risk	Likely pathogenic	Mandibular prognathia, Mandibular prognathia
RS146951835	Health Risk	Likely pathogenic	Mandibular prognathia, Mandibular prognathia
RS751933066	Health Risk	Likely pathogenic	Mandibular prognathia, Mandibular prognathia, Mandibular prognathia