Gene: ERLIN1

Alternate names for this Gene: C10orf69|Erlin-1|KE04|KEO4|SPFH1|SPG62

Gene Summary: The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.31

Description of this Gene: ER lipid raft associated 1

Type of Gene: protein-coding

rs17112705 in ERLIN1 gene and Creatine kinase measurement PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs17112705 in ERLIN1 gene and Finding of creatine kinase level PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

rs1408579 in ERLIN1 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs1408579 in ERLIN1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs1324694 in ERLIN1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs876661322 in ERLIN1 gene and SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

rs1408579 in ERLIN1 gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs28372851 in ERLIN1 gene and Squamous cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.