Gene: EPB41L4A

Alternate names for this Gene: EPB41L4|NBL4

Gene Summary: The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway.

Gene is located in Chromosome: 5

Location in Chromosome : 5q22.1-q22.2

Description of this Gene: erythrocyte membrane protein band 4.1 like 4A

Type of Gene: protein-coding

rs379440 in EPB41L4A gene and Coagulation factor measurement PMID 21810271 2011 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.

rs73227498 in EPB41L4A gene and Thyroid carcinoma PMID 28195142 2017 A genome-wide association study yields five novel thyroid cancer risk loci.

rs379440 in EPB41L4A gene and von Willebrand's factor (lab test) PMID 21810271 2011 Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.