Gene: EPB41L1

Alternate names for this Gene: 4.1N|MRD11

Gene Summary: Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.23

Description of this Gene: erythrocyte membrane protein band 4.1 like 1

Type of Gene: protein-coding

rs2247732 in EPB41L1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs140604942 in EPB41L1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs6141600 in EPB41L1 gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs6141600 in EPB41L1 gene and Hip circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs17362569 in EPB41L1 gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs17362569 in EPB41L1 gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs2247732 in EPB41L1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.